Variant report

Variant	rs532372288
Chromosome Location	chr12:121342058-121342059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr12:121341537-121342090	GM12892	blood:	n/a	chr12:121341908-121341922 chr12:121341946-121341956 chr12:121341912-121341923 chr12:121341742-121341756 chr12:121341945-121341953 chr12:121341908-121341917 chr12:121341952-121341963 chr12:121341955-121341966 chr12:121341951-121341960 chr12:121341960-121341969 chr12:121341914-121341923 chr12:121341954-121341968 chr12:121341911-121341925 chr12:121342009-121342023 chr12:121341909-121341920 chr12:121341954-121341963 chr12:121341939-121341958 chr12:121341934-121341956 chr12:121341951-121341965 chr12:121341911-121341920 chr12:121341957-121341966 chr12:121341820-121341831 chr12:121341914-121341928
2	USF2	chr12:121342036-121342414	K562	blood:	n/a	chr12:121342198-121342211 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121342198-121342209 chr12:121342217-121342228 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
3	CTCF	chr12:121341922-121342308	GM12878	blood:	n/a	n/a
4	SMARCB1	chr12:121341115-121342579	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr12:121341026-121342561	GM12892	blood:	n/a	n/a
6	FOXP2	chr12:121342027-121342522	PFSK-1	brain:	n/a	n/a
7	SP1	chr12:121341991-121342584	GM12878	blood:	n/a	chr12:121342232-121342244 chr12:121342233-121342243 chr12:121342410-121342431 chr12:121342159-121342173 chr12:121342232-121342244 chr12:121342233-121342242 chr12:121342380-121342391 chr12:121342168-121342180 chr12:121342162-121342174 chr12:121342233-121342243 chr12:121342168-121342180 chr12:121342163-121342172 chr12:121342234-121342243 chr12:121342154-121342168 chr12:121342233-121342242 chr12:121342343-121342354 chr12:121342162-121342174 chr12:121342164-121342173 chr12:121342169-121342178 chr12:121342157-121342169 chr12:121342233-121342247 chr12:121342169-121342179 chr12:121342170-121342179
8	POLR2A	chr12:121342007-121342449	HepG2	liver:	n/a	n/a
9	ELF1	chr12:121342002-121342483	GM12878	blood:	n/a	chr12:121342167-121342179
10	POLR2A	chr12:121341285-121342566	HCT-116	colon:	n/a	n/a
11	JUND	chr12:121342048-121342407	K562	blood:	n/a	chr12:121342339-121342348
12	SIN3AK20	chr12:121341961-121342657	SK-N-SH	brain:	n/a	n/a
13	YY1	chr12:121341786-121342311	K562	blood:	n/a	chr12:121342172-121342181 chr12:121341908-121341922 chr12:121341946-121341956 chr12:121342164-121342175 chr12:121341912-121341923 chr12:121342170-121342181 chr12:121341945-121341953 chr12:121341908-121341917 chr12:121341952-121341963 chr12:121342166-121342175 chr12:121342169-121342178 chr12:121341955-121341966 chr12:121341951-121341960 chr12:121341960-121341969 chr12:121341914-121341923 chr12:121341954-121341968 chr12:121341911-121341925 chr12:121342009-121342023 chr12:121341909-121341920 chr12:121341954-121341963 chr12:121341939-121341958 chr12:121341934-121341956 chr12:121341951-121341965 chr12:121341911-121341920 chr12:121341957-121341966 chr12:121341820-121341831 chr12:121342166-121342180 chr12:121341914-121341928
14	USF1	chr12:121341903-121342626	ECC-1	luminal epithelium:	n/a	chr12:121342198-121342211 chr12:121341911-121341927 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121341908-121341924 chr12:121341919-121341935 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121341907-121341923 chr12:121341951-121341967 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
15	POLR2A	chr12:121341863-121342529	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr12:121341935-121342529	U87	brain:	n/a	n/a
17	CREB1	chr12:121341899-121342588	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:121342040-121342190	GM12864	blood:	n/a	n/a
19	POLR2A	chr12:121340996-121343056	MCF10A-Er-Src	breast:	n/a	n/a
20	TAF1	chr12:121341150-121342522	HepG2	liver:	n/a	n/a
21	CTCF	chr12:121342026-121342167	H1-hESC	embryonic stem cell:	n/a	n/a
22	TAF1	chr12:121341965-121342445	PFSK-1	brain:	n/a	n/a
23	YY1	chr12:121341233-121342378	H1-hESC	embryonic stem cell:	n/a	chr12:121342172-121342181 chr12:121341908-121341922 chr12:121341946-121341956 chr12:121342164-121342175 chr12:121341912-121341923 chr12:121342170-121342181 chr12:121341742-121341756 chr12:121341945-121341953 chr12:121341908-121341917 chr12:121341952-121341963 chr12:121342166-121342175 chr12:121342169-121342178 chr12:121341955-121341966 chr12:121341951-121341960 chr12:121341960-121341969 chr12:121341914-121341923 chr12:121341954-121341968 chr12:121341911-121341925 chr12:121342009-121342023 chr12:121341482-121341493 chr12:121341909-121341920 chr12:121341954-121341963 chr12:121341939-121341958 chr12:121341934-121341956 chr12:121341951-121341965 chr12:121341911-121341920 chr12:121341957-121341966 chr12:121341820-121341831 chr12:121342166-121342180 chr12:121341914-121341928
24	MAX	chr12:121341083-121342657	K562	blood:	n/a	chr12:121342219-121342228 chr12:121342202-121342218 chr12:121342200-121342209 chr12:121342199-121342210 chr12:121341537-121341547
25	TAF1	chr12:121341632-121342458	HepG2	liver:	n/a	n/a
26	POLR2A	chr12:121341937-121342418	A549	lung:	n/a	n/a
27	HNF4A	chr12:121341947-121342318	HepG2	liver:	n/a	n/a
28	EP300	chr12:121342013-121342538	A549	lung:	n/a	chr12:121342327-121342343
29	POLR2A	chr12:121341920-121342439	HCT-116	colon:	n/a	n/a
30	POLR2A	chr12:121341990-121342382	HepG2	liver:	n/a	n/a
31	YY1	chr12:121341554-121342352	K562	blood:	n/a	chr12:121342172-121342181 chr12:121341908-121341922 chr12:121341946-121341956 chr12:121342164-121342175 chr12:121341912-121341923 chr12:121342170-121342181 chr12:121341742-121341756 chr12:121341945-121341953 chr12:121341908-121341917 chr12:121341952-121341963 chr12:121342166-121342175 chr12:121342169-121342178 chr12:121341955-121341966 chr12:121341951-121341960 chr12:121341960-121341969 chr12:121341914-121341923 chr12:121341954-121341968 chr12:121341911-121341925 chr12:121342009-121342023 chr12:121341909-121341920 chr12:121341954-121341963 chr12:121341939-121341958 chr12:121341934-121341956 chr12:121341951-121341965 chr12:121341911-121341920 chr12:121341957-121341966 chr12:121341820-121341831 chr12:121342166-121342180 chr12:121341914-121341928
32	USF1	chr12:121341924-121342700	SK-N-SH	brain:	n/a	chr12:121342198-121342211 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121341951-121341967 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
33	POLR2A	chr12:121341179-121342664	Raji	blood:	n/a	n/a
34	POLR2A	chr12:121341282-121342550	HUVEC	blood vessel:	n/a	n/a
35	NFIC	chr12:121341979-121342499	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr12:121341960-121342316	H1-hESC	embryonic stem cell:	n/a	n/a
37	EGR1	chr12:121341949-121342474	MCF-7	breast:	n/a	chr12:121342163-121342178 chr12:121342087-121342101 chr12:121342164-121342178 chr12:121342173-121342182 chr12:121342339-121342352 chr12:121342170-121342183 chr12:121342164-121342177 chr12:121342164-121342177 chr12:121342169-121342179 chr12:121342164-121342177 chr12:121342173-121342183 chr12:121342167-121342177 chr12:121342164-121342177 chr12:121342167-121342176
38	POLR2A	chr12:121342031-121342398	HUVEC	blood vessel:	n/a	n/a
39	MAX	chr12:121342016-121342611	K562	blood:	n/a	chr12:121342219-121342228 chr12:121342202-121342218 chr12:121342200-121342209 chr12:121342199-121342210
40	RAD21	chr12:121341954-121342269	HepG2	liver:	n/a	n/a
41	ELF1	chr12:121341912-121342607	GM12878	blood:	n/a	chr12:121341983-121341995 chr12:121341914-121341923 chr12:121341951-121341960 chr12:121341957-121341966 chr12:121342167-121342179 chr12:121341912-121341924 chr12:121341952-121341964 chr12:121341954-121341963
42	EP300	chr12:121341197-121342606	SK-N-SH	brain:	n/a	chr12:121341955-121341971 chr12:121341953-121341962 chr12:121341913-121341922 chr12:121341910-121341919 chr12:121341956-121341965 chr12:121341916-121341925 chr12:121342327-121342343
43	PAX5	chr12:121341959-121342241	GM12878	blood:	n/a	n/a
44	YY1	chr12:121341225-121342427	ECC-1	luminal epithelium:	n/a	chr12:121342172-121342181 chr12:121341908-121341922 chr12:121341946-121341956 chr12:121342164-121342175 chr12:121341912-121341923 chr12:121342170-121342181 chr12:121341742-121341756 chr12:121341945-121341953 chr12:121341908-121341917 chr12:121341952-121341963 chr12:121342166-121342175 chr12:121342169-121342178 chr12:121341955-121341966 chr12:121341951-121341960 chr12:121341960-121341969 chr12:121341914-121341923 chr12:121341954-121341968 chr12:121341911-121341925 chr12:121342009-121342023 chr12:121341482-121341493 chr12:121341909-121341920 chr12:121341954-121341963 chr12:121341939-121341958 chr12:121341934-121341956 chr12:121341951-121341965 chr12:121341911-121341920 chr12:121341957-121341966 chr12:121341820-121341831 chr12:121342166-121342180 chr12:121341914-121341928
45	CTCF	chr12:121342003-121342260	GM19239	blood:	n/a	n/a
46	HCFC1	chr12:121341045-121343163	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr12:121341096-121342581	MCF-7	breast:	n/a	n/a
48	USF1	chr12:121341970-121342465	A549	lung:	n/a	chr12:121342198-121342211 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
49	RAD21	chr12:121341970-121342236	K562	blood:	n/a	n/a
50	CTCF	chr12:121342040-121342190	GM06990	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121341724..121342252-chr6:13615154..13615782,2	Hela-S3	cervix:

Variant related genes	Relation type
SPPL3	TF binding region
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv19320	chr12:121340524-121342267	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3374315	chr12:121340794-121343342	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv560440	chr12:121340954-121342125	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3384193	chr12:121341069-121343317	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1794625	chr12:121341120-121342240	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv1800449	chr12:121341120-121342240	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv1850540	chr12:121341120-121342240	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv560441	chr12:121341120-121342240	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv560443	chr12:121341323-121342186	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv560444	chr12:121341323-121342240	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv560445	chr12:121341374-121342240	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
16	nsv560446	chr12:121341425-121342240	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv560447	chr12:121341477-121342125	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	nsv560448	chr12:121341477-121364324	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv560449	chr12:121341529-121342186	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv560450	chr12:121341529-121342240	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv560451	chr12:121341581-121342240	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
22	nsv560452	chr12:121341581-121357934	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121340000-121342400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr12:121340000-121342400	Active TSS	Fetal Intestine Large	intestine
3	chr12:121340000-121342800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:121340000-121342800	Active TSS	NHDF-Ad	bronchial
5	chr12:121340200-121342600	Active TSS	NHLF	lung
6	chr12:121340200-121343000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:121340400-121342200	Active TSS	Colonic Mucosa	Colon
8	chr12:121340400-121342400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr12:121340400-121342400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:121340400-121342400	Active TSS	Esophagus	oesophagus
11	chr12:121340400-121342600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr12:121340400-121342600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:121340400-121342800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr12:121340400-121343000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr12:121340600-121342200	Active TSS	HMEC	breast
16	chr12:121340600-121342400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:121340600-121342400	Active TSS	Aorta	Aorta
18	chr12:121340600-121342400	Active TSS	Fetal Intestine Small	intestine
19	chr12:121340600-121342400	Active TSS	Lung	lung
20	chr12:121340600-121342400	Active TSS	GM12878-XiMat	blood
21	chr12:121340600-121342600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr12:121340600-121342800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:121340600-121342800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:121340600-121342800	Active TSS	Brain Angular Gyrus	brain
25	chr12:121340600-121342800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:121340600-121342800	Active TSS	HSMM	muscle
27	chr12:121340600-121343000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:121340800-121342200	Active TSS	Placenta	Placenta
29	chr12:121340800-121342400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:121340800-121342400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr12:121340800-121342400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:121340800-121342400	Active TSS	Brain Anterior Caudate	brain
33	chr12:121340800-121342400	Active TSS	Duodenum Mucosa	Duodenum
34	chr12:121340800-121342400	Active TSS	Fetal Lung	lung
35	chr12:121340800-121342400	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr12:121340800-121342400	Active TSS	Thymus	Thymus
37	chr12:121340800-121342400	Active TSS	Spleen	Spleen
38	chr12:121340800-121342400	Active TSS	NHEK	skin
39	chr12:121340800-121342400	Active TSS	Osteobl	bone
40	chr12:121340800-121342600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:121340800-121342600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:121340800-121342600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:121340800-121342600	Active TSS	Brain Cingulate Gyrus	brain
44	chr12:121340800-121342600	Active TSS	Brain Substantia Nigra	brain
45	chr12:121340800-121342600	Active TSS	Gastric	stomach
46	chr12:121340800-121342600	Active TSS	Ovary	ovary
47	chr12:121340800-121342600	Active TSS	HSMMtube	muscle
48	chr12:121340800-121342800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr12:121340800-121342800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr12:121340800-121342800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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