Variant report

Variant	rs566024973
Chromosome Location	chr12:121342347-121342348
allele	A/C
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	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
2	TAF1	chr12:121342065-121342358	H1-neurons	neurons:	n/a	n/a
3	SMARCB1	chr12:121341115-121342579	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr12:121341026-121342561	GM12892	blood:	n/a	n/a
5	FOXP2	chr12:121342027-121342522	PFSK-1	brain:	n/a	n/a
6	REST	chr12:121342176-121342573	A549	lung:	n/a	chr12:121342293-121342306 chr12:121342386-121342399 chr12:121342386-121342406 chr12:121342386-121342406 chr12:121342480-121342493 chr12:121342386-121342406
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	MXI1	chr12:121342129-121342689	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr12:121342007-121342449	HepG2	liver:	n/a	n/a
10	ELF1	chr12:121342002-121342483	GM12878	blood:	n/a	chr12:121342167-121342179
11	POLR2A	chr12:121341285-121342566	HCT-116	colon:	n/a	n/a
12	JUND	chr12:121342048-121342407	K562	blood:	n/a	chr12:121342339-121342348
13	EP300	chr12:121342098-121342651	K562	blood:	n/a	chr12:121342327-121342343
14	SIN3AK20	chr12:121341961-121342657	SK-N-SH	brain:	n/a	n/a
15	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
16	POLR2A	chr12:121341863-121342529	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr12:121341935-121342529	U87	brain:	n/a	n/a
18	CREB1	chr12:121341899-121342588	H1-hESC	embryonic stem cell:	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	TAF1	chr12:121341965-121342445	PFSK-1	brain:	n/a	n/a
22	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
23	PML	chr12:121342142-121342361	GM12878	blood:	n/a	n/a
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	TRIM28	chr12:121342211-121342673	K562	blood:	n/a	n/a
27	POLR2A	chr12:121341937-121342418	A549	lung:	n/a	n/a
28	SIN3AK20	chr12:121342125-121342534	HepG2	liver:	n/a	n/a
29	TAL1	chr12:121342269-121342434	K562	blood:	n/a	n/a
30	EP300	chr12:121342013-121342538	A549	lung:	n/a	chr12:121342327-121342343
31	POLR2A	chr12:121341920-121342439	HCT-116	colon:	n/a	n/a
32	POLR2A	chr12:121341990-121342382	HepG2	liver:	n/a	n/a
33	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
34	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
35	POLR2A	chr12:121342119-121342465	GM12891	blood:	n/a	n/a
36	POLR2A	chr12:121341179-121342664	Raji	blood:	n/a	n/a
37	POLR2A	chr12:121341282-121342550	HUVEC	blood vessel:	n/a	n/a
38	NFIC	chr12:121341979-121342499	ECC-1	luminal epithelium:	n/a	n/a
39	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
40	POLR2A	chr12:121342031-121342398	HUVEC	blood vessel:	n/a	n/a
41	MAX	chr12:121342016-121342611	K562	blood:	n/a	chr12:121342219-121342228 chr12:121342202-121342218 chr12:121342200-121342209 chr12:121342199-121342210
42	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
43	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
44	NRF1	chr12:121342069-121342448	H1-hESC	embryonic stem cell:	n/a	chr12:121342251-121342262 chr12:121342169-121342178
45	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
46	POLR2A	chr12:121342097-121342669	PBDE	blood:	n/a	n/a
47	HCFC1	chr12:121341045-121343163	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr12:121341096-121342581	MCF-7	breast:	n/a	n/a
49	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
50	POLR2A	chr12:121341825-121342671	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121342321-121342371	HEK293	kidney:	embryo
2	chr12:121342321-121342371	GM12891	blood:	n/a
3	chr12:121342321-121342371	HCM	heart:	n/a
4	chr12:121342321-121342371	NT2-D1	testis:	n/a
5	chr12:121342321-121342371	SK-N-SH_RA	brain:	n/a
6	chr12:121342321-121342371	AG10803	skin:	n/a
7	chr12:121342321-121342371	SK-N-SH	brain:	n/a
8	chr12:121342321-121342371	Hela-S3	cervix:	n/a
9	chr12:121342321-121342371	AG09309	skin:	n/a
10	chr12:121342321-121342371	SAEC	small airway:	n/a
11	chr12:121342321-121342371	ECC-1	luminal epithelium:	n/a
12	chr12:121342321-121342371	T-47D	breast:	n/a
13	chr12:121342321-121342371	Hepatocyte	liver:	n/a
14	chr12:121342321-121342371	ovcar-3	ovarian:	n/a
15	chr12:121342321-121342371	NHDF-neo	bronchial:	n/a
16	chr12:121342321-121342371	A549	lung:	n/a
17	chr12:121342321-121342371	GM12892	blood:	n/a
18	chr12:121342321-121342371	HMEC	breast:	n/a
19	chr12:121342321-121342371	CMK	blood:	n/a
20	chr12:121342321-121342371	HNPCEpiC	eye:	n/a
21	chr12:121342321-121342371	HCT-116	colon:	n/a
22	chr12:121342321-121342371	LNCaP	prostate:	n/a
23	chr12:121342321-121342371	HRE	kidney:	n/a
24	chr12:121342321-121342371	BJ	skin:	n/a
25	chr12:121342321-121342371	HIPEpiC	eye:	n/a
26	chr12:121342321-121342371	MCF10A-Er-Src	breast:	n/a
27	chr12:121342321-121342371	SK-N-MC	brain:	n/a
28	chr12:121342321-121342371	HRCEpiC	kidney:	n/a
29	chr12:121342321-121342371	SKMC	muscle:	n/a
30	chr12:121342321-121342371	BE2_C	brain:	n/a
31	chr12:121342321-121342371	AG09319	gingival:	n/a
32	chr12:121342321-121342371	NHBE	bronchial:	n/a
33	chr12:121342321-121342371	Jurkat	blood:	n/a
34	chr12:121342321-121342371	AoSMC	blood vessel:	n/a
35	chr12:121342321-121342371	AG04450	lung:	fetal
36	chr12:121342321-121342371	AG04449	skin:	fetal
37	chr12:121342321-121342371	Caco-2	colon:	n/a
38	chr12:121342321-121342371	HUVEC	blood vessel:	n/a
39	chr12:121342321-121342371	NH-A	brain:	n/a
40	chr12:121342321-121342371	HRPEpiC	eye:	n/a
41	chr12:121342321-121342371	U87	brain:	n/a
42	chr12:121342321-121342371	HAEpiC	amniotic membrane:	n/a
43	chr12:121342321-121342371	H1-hESC	embryonic stem cell:	embryo
44	chr12:121342321-121342371	RPTEC	kidney:	n/a
45	chr12:121342321-121342371	HepG2	liver:	n/a
46	chr12:121342321-121342371	PrEC	prostate:	n/a
47	chr12:121342321-121342371	K562	blood:	n/a
48	chr12:121342321-121342371	HPAEpiC	pulmonary alveolar:	n/a
49	chr12:121342321-121342371	HEEpiC	esophagus:	n/a
50	chr12:121342321-121342371	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121342121..121344461-chr12:121350958..121352582,2	K562	blood:

Variant related genes	Relation type
SPPL3	TF binding region
SPPL3	CpG island
ENSG00000231313	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
6	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
7	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
8	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
9	nsv560453	chr12:121342186-121364324	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	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	chr12:121340400-121342400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr12:121340400-121342400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:121340400-121342400	Active TSS	Esophagus	oesophagus
10	chr12:121340400-121342600	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:121340400-121342600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:121340400-121342800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr12:121340400-121343000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:121340600-121342400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:121340600-121342400	Active TSS	Aorta	Aorta
16	chr12:121340600-121342400	Active TSS	Fetal Intestine Small	intestine
17	chr12:121340600-121342400	Active TSS	Lung	lung
18	chr12:121340600-121342400	Active TSS	GM12878-XiMat	blood
19	chr12:121340600-121342600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:121340600-121342800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:121340600-121342800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:121340600-121342800	Active TSS	Brain Angular Gyrus	brain
23	chr12:121340600-121342800	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr12:121340600-121342800	Active TSS	HSMM	muscle
25	chr12:121340600-121343000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:121340800-121342400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:121340800-121342400	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr12:121340800-121342400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:121340800-121342400	Active TSS	Brain Anterior Caudate	brain
30	chr12:121340800-121342400	Active TSS	Duodenum Mucosa	Duodenum
31	chr12:121340800-121342400	Active TSS	Fetal Lung	lung
32	chr12:121340800-121342400	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr12:121340800-121342400	Active TSS	Thymus	Thymus
34	chr12:121340800-121342400	Active TSS	Spleen	Spleen
35	chr12:121340800-121342400	Active TSS	NHEK	skin
36	chr12:121340800-121342400	Active TSS	Osteobl	bone
37	chr12:121340800-121342600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:121340800-121342600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:121340800-121342600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:121340800-121342600	Active TSS	Brain Cingulate Gyrus	brain
41	chr12:121340800-121342600	Active TSS	Brain Substantia Nigra	brain
42	chr12:121340800-121342600	Active TSS	Gastric	stomach
43	chr12:121340800-121342600	Active TSS	Ovary	ovary
44	chr12:121340800-121342600	Active TSS	HSMMtube	muscle
45	chr12:121340800-121342800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr12:121340800-121342800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr12:121340800-121342800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:121340800-121342800	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr12:121340800-121342800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:121341000-121342400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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