Variant report

Variant	rs369221682
Chromosome Location	chr12:121342588-121342589
allele	C/T
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	SIN3AK20	chr12:121342351-121342623	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr12:121342129-121342689	H1-hESC	embryonic stem cell:	n/a	n/a
3	EP300	chr12:121342098-121342651	K562	blood:	n/a	chr12:121342327-121342343
4	SIN3AK20	chr12:121341961-121342657	SK-N-SH	brain:	n/a	n/a
5	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
6	CREB1	chr12:121341899-121342588	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:121340996-121343056	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr12:121341083-121342657	K562	blood:	n/a	chr12:121342219-121342228 chr12:121342202-121342218 chr12:121342200-121342209 chr12:121342199-121342210 chr12:121341537-121341547
9	TRIM28	chr12:121342211-121342673	K562	blood:	n/a	n/a
10	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
11	POLR2A	chr12:121341179-121342664	Raji	blood:	n/a	n/a
12	MAX	chr12:121342016-121342611	K562	blood:	n/a	chr12:121342219-121342228 chr12:121342202-121342218 chr12:121342200-121342209 chr12:121342199-121342210
13	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
14	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
15	POLR2A	chr12:121342097-121342669	PBDE	blood:	n/a	n/a
16	HCFC1	chr12:121341045-121343163	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr12:121341825-121342671	HUVEC	blood vessel:	n/a	n/a
18	USF1	chr12:121341968-121342656	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
19	POLR2A	chr12:121342040-121342691	K562	blood:	n/a	n/a
20	POLR2A	chr12:121341054-121342661	HepG2	liver:	n/a	n/a
21	USF1	chr12:121342035-121342656	SK-N-SH_RA	brain:	n/a	chr12:121342198-121342211 chr12:121342200-121342209 chr12:121342217-121342230 chr12:121342200-121342209 chr12:121342218-121342227 chr12:121342199-121342208 chr12:121342326-121342342 chr12:121342201-121342210 chr12:121342194-121342215 chr12:121342213-121342234
22	USF2	chr12:121342031-121342722	HepG2	liver:	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
23	PBX3	chr12:121342060-121342745	A549	lung:	n/a	chr12:121342512-121342521 chr12:121342445-121342454 chr12:121342412-121342421 chr12:121342397-121342417 chr12:121342500-121342509
24	GABPA	chr12:121342077-121342657	K562	blood:	n/a	chr12:121342169-121342178
25	CEBPD	chr12:121342053-121342630	K562	blood:	n/a	n/a
26	POLR2A	chr12:121341155-121342743	H1-neurons	neurons:	n/a	n/a
27	PBX3	chr12:121342299-121342601	GM12878	blood:	n/a	chr12:121342512-121342521 chr12:121342445-121342454 chr12:121342412-121342421 chr12:121342397-121342417 chr12:121342500-121342509
28	STAT5A	chr12:121342137-121342691	GM12878	blood:	n/a	n/a
29	POLR2A	chr12:121341236-121342633	K562	blood:	n/a	n/a
30	EGR1	chr12:121341932-121342613	K562	blood:	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
31	NRF1	chr12:121341924-121342867	SK-N-SH	brain:	n/a	chr12:121342022-121342031 chr12:121342251-121342262 chr12:121342169-121342178
32	CBX3	chr12:121342027-121342954	K562	blood:	n/a	n/a
33	REST	chr12:121342061-121342606	A549	lung:	n/a	chr12:121342293-121342306 chr12:121342386-121342399 chr12:121342386-121342406 chr12:121342386-121342406 chr12:121342480-121342493 chr12:121342386-121342406
34	MAX	chr12:121341883-121342672	A549	lung:	n/a	chr12:121342202-121342218 chr12:121342200-121342209 chr12:121342199-121342210 chr12:121342219-121342228
35	POLR2A	chr12:121341026-121342643	GM18505	blood:	n/a	n/a
36	SIN3A	chr12:121341099-121342872	H1-hESC	embryonic stem cell:	n/a	chr12:121341820-121341831 chr12:121342218-121342227
37	TBL1XR1	chr12:121342154-121342588	K562	blood:	n/a	n/a
38	MXI1	chr12:121340581-121343068	SK-N-SH	brain:	n/a	n/a
39	TBP	chr12:121342003-121342608	H1-hESC	embryonic stem cell:	n/a	n/a
40	SIN3AK20	chr12:121341401-121342703	PANC-1	pancreas:	n/a	n/a
41	USF1	chr12:121342059-121342590	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
42	POLR2A	chr12:121341874-121342598	MCF-7	breast:	n/a	n/a
43	POLR2A	chr12:121342035-121342606	SK-N-SH	brain:	n/a	n/a
44	REST	chr12:121341044-121342840	H1-neurons	neurons:	n/a	chr12:121342293-121342306 chr12:121342386-121342399 chr12:121342386-121342406 chr12:121342386-121342406 chr12:121342480-121342493 chr12:121342386-121342406
45	PML	chr12:121341851-121342787	GM12878	blood:	n/a	n/a
46	MAX	chr12:121342017-121342665	NB4	blood:	n/a	chr12:121342219-121342228 chr12:121342202-121342218 chr12:121342200-121342209 chr12:121342199-121342210
47	ZMIZ1	chr12:121342081-121342626	K562	blood:	n/a	n/a
48	EGR1	chr12:121341811-121342680	HCT-116	colon:	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
49	FOSL1	chr12:121342218-121342604	K562	blood:	n/a	chr12:121342339-121342348
50	MXI1	chr12:121341700-121342725	HepG2	liver:	n/a	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
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	chr12:121340000-121342800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:121340000-121342800	Active TSS	NHDF-Ad	bronchial
3	chr12:121340200-121342600	Active TSS	NHLF	lung
4	chr12:121340200-121343000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:121340400-121342600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:121340400-121342600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:121340400-121342800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:121340400-121343000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr12:121340600-121342600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr12:121340600-121342800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:121340600-121342800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:121340600-121342800	Active TSS	Brain Angular Gyrus	brain
13	chr12:121340600-121342800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr12:121340600-121342800	Active TSS	HSMM	muscle
15	chr12:121340600-121343000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:121340800-121342600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:121340800-121342600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:121340800-121342600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:121340800-121342600	Active TSS	Brain Cingulate Gyrus	brain
20	chr12:121340800-121342600	Active TSS	Brain Substantia Nigra	brain
21	chr12:121340800-121342600	Active TSS	Gastric	stomach
22	chr12:121340800-121342600	Active TSS	Ovary	ovary
23	chr12:121340800-121342600	Active TSS	HSMMtube	muscle
24	chr12:121340800-121342800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr12:121340800-121342800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr12:121340800-121342800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:121340800-121342800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr12:121340800-121342800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:121341000-121342600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:121341000-121342600	Active TSS	Fetal Brain Female	brain
31	chr12:121341000-121342800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:121341000-121342800	Active TSS	Brain Germinal Matrix	brain
33	chr12:121341000-121342800	Active TSS	Fetal Kidney	kidney
34	chr12:121341000-121343000	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr12:121341200-121342600	Active TSS	Primary T cells from cord blood	blood
36	chr12:121341200-121342600	Active TSS	Psoas Muscle	Psoas
37	chr12:121341200-121342800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:121341200-121342800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:121341400-121342600	Active TSS	HepG2	liver
40	chr12:121341400-121342800	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr12:121341400-121342800	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr12:121341800-121342800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr12:121342200-121342600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr12:121342200-121342600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr12:121342200-121342600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr12:121342200-121342600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:121342200-121342600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:121342200-121342600	Flanking Active TSS	Colonic Mucosa	Colon
49	chr12:121342200-121342600	Flanking Active TSS	Placenta	Placenta
50	chr12:121342200-121342600	Flanking Active TSS	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links