Variant report

Variant	rs7136961
Chromosome Location	chr12:120633859-120633860
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	POLR2A	chr12:120632336-120634178	HCT-116	colon:	n/a	n/a
2	ZNF384	chr12:120632348-120633999	K562	blood:	n/a	n/a
3	HCFC1	chr12:120631413-120634490	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr12:120633720-120633870	Hela-S3	cervix:	n/a	n/a
5	EP300	chr12:120633590-120634478	A549	lung:	n/a	n/a
6	ATF2	chr12:120633572-120634218	GM12878	blood:	n/a	n/a
7	BCLAF1	chr12:120632248-120634467	K562	blood:	n/a	chr12:120632625-120632638 chr12:120632581-120632594 chr12:120632462-120632475 chr12:120632464-120632477 chr12:120632577-120632590
8	BCLAF1	chr12:120633480-120634354	GM12878	blood:	n/a	n/a
9	POLR2A	chr12:120631371-120639781	PANC-1	pancreas:	n/a	n/a
10	BCL3	chr12:120632240-120634153	GM12878	blood:	n/a	chr12:120632625-120632638 chr12:120632581-120632594 chr12:120632462-120632475 chr12:120632464-120632477 chr12:120632577-120632590
11	MYC	chr12:120631638-120634210	K562	blood:	n/a	chr12:120632554-120632563 chr12:120634196-120634206
12	POLR2A	chr12:120632180-120634392	GM12878	blood:	n/a	n/a
13	NFATC1	chr12:120632249-120634334	GM12878	blood:	n/a	n/a
14	ZNF263	chr12:120633539-120634095	HEK293-T-REx	kidney:	n/a	chr12:120633623-120633644
15	GTF2F1	chr12:120633591-120634024	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr12:120632187-120634174	Raji	blood:	n/a	n/a
17	POLR2A	chr12:120632048-120635920	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr12:120632029-120639863	Hela-S3	cervix:	n/a	n/a
19	PML	chr12:120633490-120634588	K562	blood:	n/a	n/a
20	TEAD4	chr12:120632311-120634578	K562	blood:	n/a	n/a
21	POLR2A	chr12:120632161-120634190	GM15510	blood:	n/a	n/a
22	CBX3	chr12:120633573-120634195	K562	blood:	n/a	n/a
23	TAF7	chr12:120633554-120634158	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr12:120633436-120634284	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr12:120632039-120634607	HL-60	blood:	n/a	n/a
26	RCOR1	chr12:120632299-120634021	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr12:120633434-120634425	HepG2	liver:	n/a	n/a
28	CHD2	chr12:120633580-120633859	HepG2	liver:	n/a	n/a
29	MXI1	chr12:120631098-120634190	SK-N-SH	brain:	n/a	n/a
30	NR2F2	chr12:120632627-120634459	K562	blood:	n/a	n/a
31	USF2	chr12:120633534-120634365	Hela-S3	cervix:	n/a	n/a
32	HEY1	chr12:120632172-120634550	HepG2	liver:	n/a	chr12:120632300-120632315 chr12:120632461-120632476 chr12:120632302-120632317
33	MXI1	chr12:120633737-120634061	K562	blood:	n/a	n/a
34	NFIC	chr12:120632319-120634313	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:120632135-120635622	GM12891	blood:	n/a	n/a
36	JUND	chr12:120632335-120634322	A549	lung:	n/a	chr12:120632847-120632857 chr12:120632847-120632857 chr12:120632847-120632857 chr12:120632469-120632478
37	POLR2A	chr12:120632197-120634391	NB4	blood:	n/a	n/a
38	POLR2A	chr12:120631995-120634412	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:120632203-120639596	K562	blood:	n/a	n/a
40	POLR2A	chr12:120632246-120634551	HCT-116	colon:	n/a	n/a
41	POLR2A	chr12:120631403-120634540	ECC-1	luminal epithelium:	n/a	n/a
42	ELF1	chr12:120633447-120634500	A549	lung:	n/a	n/a
43	POLR2A	chr12:120632153-120635516	HepG2	liver:	n/a	n/a
44	STAT5A	chr12:120633686-120634000	GM12878	blood:	n/a	n/a
45	PBX3	chr12:120632329-120634139	A549	lung:	n/a	n/a
46	TEAD4	chr12:120633740-120634299	HepG2	liver:	n/a	n/a
47	CEBPD	chr12:120633387-120634494	K562	blood:	n/a	n/a
48	MAX	chr12:120632106-120634314	HCT-116	colon:	n/a	chr12:120632554-120632563 chr12:120634196-120634206
49	MAX	chr12:120633710-120634481	A549	lung:	n/a	chr12:120634196-120634206
50	POLR2A	chr12:120632269-120635730	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120628864..120642103-chr12:120725347..120732286,54	K562	blood:
2	chr12:120628211..120641965-chr12:120660551..120674110,39	K562	blood:
3	chr12:120553299..120556376-chr12:120632430..120634315,3	MCF-7	breast:
4	chr12:120551826..120556882-chr12:120630846..120640383,26	K562	blood:
5	chr12:120626707..120642605-chr12:120719450..120732919,96	MCF-7	breast:
6	chr12:120573945..120575639-chr12:120632409..120634633,3	MCF-7	breast:
7	chr12:120551430..120553069-chr12:120632996..120634781,2	MCF-7	breast:
8	chr12:120633502..120634199-chr5:43008450..43008975,2	NB4	blood:
9	chr12:120632665..120634375-chr12:120655462..120658221,2	K562	blood:
10	chr12:120600039..120601830-chr12:120632774..120634294,2	MCF-7	breast:
11	chr12:120574047..120576744-chr12:120631730..120634976,3	MCF-7	breast:
12	chr12:120632971..120634754-chr12:120762864..120765593,2	MCF-7	breast:
13	chr12:120632974..120634618-chr17:46971835..46974020,2	K562	blood:
14	chr12:120594749..120596361-chr12:120632172..120634549,2	K562	blood:
15	chr12:120562076..120563996-chr12:120632946..120634674,2	K562	blood:
16	chr12:120631139..120640506-chr12:120724902..120734482,54	K562	blood:
17	chr12:120552488..120558210-chr12:120630092..120634088,8	MCF-7	breast:
18	chr12:120552161..120556177-chr12:120630368..120635589,11	K562	blood:
19	chr12:120633014..120635461-chr17:64959552..64961225,2	MCF-7	breast:

Variant related genes	Relation type
GCN1L1	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000159199	Chromatin interaction
ENSG00000075461	Chromatin interaction
ENSG00000089159	Chromatin interaction
ENSG00000111737	Chromatin interaction
ENSG00000170890	Chromatin interaction
ENSG00000123009	Chromatin interaction
ENSG00000089154	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12307919	1.00[CHD][hapmap]
rs12311126	1.00[CHD][hapmap]
rs3864938	1.00[LWK][hapmap]
rs9657947	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 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	chr12:120631600-120634000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr12:120632800-120634000	Flanking Active TSS	Dnd41	blood
3	chr12:120633000-120634400	Transcr. at gene 5' and 3'	A549	lung
4	chr12:120633000-120635400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:120633000-120637200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:120633000-120637800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:120633200-120634000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:120633200-120634000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:120633200-120634000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:120633200-120634000	Enhancers	Stomach Mucosa	stomach
11	chr12:120633200-120634200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:120633200-120634200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:120633200-120634200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:120633200-120634200	Weak transcription	Brain Germinal Matrix	brain
15	chr12:120633200-120634200	Weak transcription	Ovary	ovary
16	chr12:120633200-120634200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:120633200-120634600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:120633200-120634600	Weak transcription	Aorta	Aorta
19	chr12:120633200-120635000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:120633200-120635400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:120633200-120635400	Weak transcription	Fetal Heart	heart
22	chr12:120633200-120635800	Weak transcription	Right Atrium	heart
23	chr12:120633200-120636200	Genic enhancers	NHLF	lung
24	chr12:120633200-120638400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr12:120633400-120634000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:120633400-120634000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:120633400-120634000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:120633400-120634000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:120633400-120634000	Weak transcription	Primary B cells from cord blood	blood
30	chr12:120633400-120634000	Weak transcription	Primary T cells from cord blood	blood
31	chr12:120633400-120634000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:120633400-120634000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:120633400-120634000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:120633400-120634000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:120633400-120634000	Weak transcription	Brain Substantia Nigra	brain
36	chr12:120633400-120634000	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:120633400-120634000	Genic enhancers	Fetal Intestine Small	intestine
38	chr12:120633400-120634000	Weak transcription	Gastric	stomach
39	chr12:120633400-120634000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:120633400-120634000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:120633400-120634000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr12:120633400-120634000	Weak transcription	Right Ventricle	heart
43	chr12:120633400-120634000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr12:120633400-120634000	Weak transcription	HSMMtube	muscle
45	chr12:120633400-120634000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:120633400-120634000	Enhancers	NH-A	brain
47	chr12:120633400-120634000	Weak transcription	NHDF-Ad	bronchial
48	chr12:120633400-120634200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:120633400-120634200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:120633400-120634200	Weak transcription	Left Ventricle	heart

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