Variant report

Variant	rs4763703
Chromosome Location	chr12:11698589-11698590
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	ATF2	chr12:11698247-11699429	GM12878	blood:	n/a	n/a
2	BCLAF1	chr12:11698403-11699413	GM12878	blood:	n/a	chr12:11698542-11698549
3	EP300	chr12:11698387-11699394	GM12878	blood:	n/a	chr12:11698398-11698412
4	MAZ	chr12:11698397-11699380	GM12878	blood:	n/a	chr12:11698586-11698596
5	GATA2	chr12:11698362-11698716	SH-SY5Y	brain:	n/a	chr12:11698523-11698533 chr12:11698577-11698587
6	GABPA	chr12:11698385-11698682	K562	blood:	n/a	n/a
7	FOXM1	chr12:11698362-11699332	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:11698471-11699484	GM12878	blood:	n/a	n/a
9	NFIC	chr12:11698330-11699462	GM12878	blood:	n/a	n/a
10	PBX3	chr12:11698445-11698692	GM12878	blood:	n/a	chr12:11698590-11698599
11	FOXP2	chr12:11698351-11698656	SK-N-MC	brain:	n/a	n/a
12	WRNIP1	chr12:11698433-11699313	GM12878	blood:	n/a	n/a
13	FOXP2	chr12:11698462-11698670	SK-N-MC	brain:	n/a	n/a
14	ATF2	chr12:11698316-11699382	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:11698323-11699182	GM12892	blood:	n/a	n/a
16	NFIC	chr12:11698267-11699498	GM12878	blood:	n/a	n/a
17	SPI1	chr12:11698203-11699318	GM12878	blood:	n/a	chr12:11698578-11698591
18	SP1	chr12:11698356-11699400	GM12878	blood:	n/a	chr12:11698513-11698520 chr12:11698580-11698594
19	GATA2	chr12:11698341-11698745	HUVEC	blood vessel:	n/a	chr12:11698523-11698533 chr12:11698577-11698587
20	EBF1	chr12:11698306-11698657	GM12878	blood:	n/a	n/a
21	RUNX3	chr12:11698197-11699468	GM12878	blood:	n/a	n/a
22	EBF1	chr12:11698269-11698718	GM12878	blood:	n/a	n/a
23	ELK1	chr12:11698459-11698596	GM12878	blood:	n/a	n/a
24	STAT5A	chr12:11698156-11699428	GM12878	blood:	n/a	chr12:11698197-11698209 chr12:11698578-11698590
25	POLR2A	chr12:11698404-11699303	GM12892	blood:	n/a	n/a
26	STAT1	chr12:11698444-11698605	GM12878	blood:	n/a	chr12:11698578-11698590
27	SP1	chr12:11698429-11699383	GM12878	blood:	n/a	chr12:11698513-11698520 chr12:11698580-11698594
28	TBP	chr12:11698399-11699342	GM12878	blood:	n/a	n/a
29	RCOR1	chr12:11698459-11699290	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:11698375-11699440	GM12878	blood:	n/a	chr12:11698542-11698549
31	FOS	chr12:11698343-11698723	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr12:11698493-11699019	GM12878	blood:	n/a	n/a
33	RELA	chr12:11698361-11699337	GM19099	blood:	n/a	n/a
34	FOXM1	chr12:11698572-11699473	GM12878	blood:	n/a	n/a
35	MTA3	chr12:11698144-11699512	GM12878	blood:	n/a	n/a
36	POLR2A	chr12:11698265-11699492	GM12878	blood:	n/a	n/a
37	MTA3	chr12:11698276-11699433	GM12878	blood:	n/a	n/a
38	SETDB1	chr12:11698238-11698843	U2OS	brain:	n/a	n/a
39	GABPA	chr12:11698449-11698672	GM12878	blood:	n/a	n/a
40	POLR2A	chr12:11698517-11698605	HUVEC	blood vessel:	n/a	n/a
41	GATA3	chr12:11698544-11698979	SH-SY5Y	brain:	n/a	chr12:11698866-11698876 chr12:11698577-11698587
42	PML	chr12:11698249-11699514	GM12878	blood:	n/a	n/a
43	PAX5	chr12:11698233-11699410	GM12878	blood:	n/a	n/a
44	ETS1	chr12:11698414-11699302	GM12878	blood:	n/a	chr12:11698523-11698537
45	EBF1	chr12:11698353-11698940	GM12878	blood:	n/a	n/a
46	ATF1	chr12:11698399-11698680	K562	blood:	n/a	n/a
47	CREB1	chr12:11698283-11699435	GM12878	blood:	n/a	n/a
48	RUNX3	chr12:11698187-11699580	GM12878	blood:	n/a	n/a
49	EP300	chr12:11698314-11699364	GM12878	blood:	n/a	chr12:11698398-11698412
50	POU2F2	chr12:11698416-11699420	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000247157	TF binding region
ENSG00000221128	TF binding region
RNU7-60P	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10772486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11054341	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs12582151	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs17817352	0.86[ASN][1000 genomes]
rs2416791	0.93[ASN][1000 genomes]
rs2416792	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4763705	0.93[ASN][1000 genomes]
rs6488425	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6488426	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6488427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6488428	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs74060996	0.89[ASN][1000 genomes]
rs7956437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7960374	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7967647	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv469112	chr12:11575570-11711690	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv557573	chr12:11575570-11711690	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11694000-11698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:11695800-11698600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr12:11695800-11700000	Enhancers	Fetal Stomach	stomach
4	chr12:11696200-11699800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:11696400-11700200	Enhancers	Primary hematopoietic stem cells	blood
6	chr12:11696800-11699400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:11696800-11699600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:11696800-11699800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:11697000-11698600	Weak transcription	Fetal Brain Male	brain
10	chr12:11697200-11698800	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:11697200-11699200	Weak transcription	Brain Anterior Caudate	brain
12	chr12:11697200-11699800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:11697200-11699800	Weak transcription	Fetal Intestine Small	intestine
14	chr12:11697400-11699400	Flanking Active TSS	Dnd41	blood
15	chr12:11697400-11699800	Enhancers	Primary B cells from peripheral blood	blood
16	chr12:11697400-11708600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:11697600-11698800	Enhancers	Lung	lung
18	chr12:11697600-11699000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:11697800-11700000	Weak transcription	Esophagus	oesophagus
20	chr12:11698000-11699600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:11698200-11698600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:11698200-11699000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:11698200-11699000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:11698200-11699000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:11698200-11699000	Flanking Active TSS	Fetal Thymus	thymus
26	chr12:11698200-11699200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:11698200-11699200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:11698200-11699200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:11698200-11699200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:11698200-11699200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr12:11698200-11699400	Enhancers	Duodenum Mucosa	Duodenum
32	chr12:11698200-11699600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr12:11698200-11699600	Flanking Active TSS	GM12878-XiMat	blood
34	chr12:11698200-11699800	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr12:11698200-11699800	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr12:11698200-11700000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr12:11698200-11700000	Enhancers	NH-A	brain
38	chr12:11698200-11700800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr12:11698400-11698600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:11698400-11698800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr12:11698400-11698800	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr12:11698400-11698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:11698400-11698800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr12:11698400-11698800	Enhancers	Right Atrium	heart
45	chr12:11698400-11698800	Enhancers	HUVEC	blood vessel
46	chr12:11698400-11698800	Enhancers	K562	blood
47	chr12:11698400-11699000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:11698400-11699000	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr12:11698400-11699000	Enhancers	Fetal Lung	lung
50	chr12:11698400-11699000	Enhancers	Left Ventricle	heart

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