Variant report

Variant	rs7607736
Chromosome Location	chr2:234074301-234074302
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	POLR2A	chr2:234073433-234074580	GM12892	blood:	n/a	n/a
2	EP300	chr2:234074269-234075577	ECC-1	luminal epithelium:	n/a	chr2:234074637-234074646
3	MAX	chr2:234071928-234075346	NB4	blood:	n/a	chr2:234074788-234074797
4	POLR2A	chr2:234073452-234074368	GM12891	blood:	n/a	n/a
5	NFATC1	chr2:234073595-234074322	GM12878	blood:	n/a	n/a
6	CBX3	chr2:234074134-234074968	K562	blood:	n/a	n/a
7	POLR2A	chr2:234073337-234074501	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:234073421-234074666	GM12892	blood:	n/a	n/a
9	POLR2A	chr2:234074256-234075288	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr2:234073423-234075442	GM12878	blood:	n/a	n/a
11	TCF12	chr2:234073950-234074406	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:234073502-234074529	GM12891	blood:	n/a	n/a
13	MAFK	chr2:234074258-234074803	K562	blood:	n/a	n/a
14	STAT5A	chr2:234073714-234075327	GM12878	blood:	n/a	chr2:234075286-234075298
15	POLR2A	chr2:234073424-234074456	GM12891	blood:	n/a	n/a
16	TBL1XR1	chr2:234074231-234074890	K562	blood:	n/a	n/a
17	POLR2A	chr2:234073472-234074745	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:234071838-234074625	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:234071347-234075464	NB4	blood:	n/a	n/a
20	WRNIP1	chr2:234074200-234074350	GM12878	blood:	n/a	n/a
21	MYC	chr2:234071722-234075200	NB4	blood:	n/a	chr2:234074788-234074797
22	POLR2A	chr2:234073358-234074676	GM12891	blood:	n/a	n/a
23	POLR2A	chr2:234073990-234075493	HL-60	blood:	n/a	n/a
24	POLR2A	chr2:234072760-234075420	HL-60	blood:	n/a	n/a
25	POLR2A	chr2:234073493-234074634	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:234073515-234074372	GM12892	blood:	n/a	n/a
27	STAT5A	chr2:234073521-234075478	GM12878	blood:	n/a	chr2:234075286-234075298
28	POLR2A	chr2:234071309-234075251	GM18505	blood:	n/a	n/a
29	POLR2A	chr2:234071867-234075279	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:234074098-234074595	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:234074064-234075116	K562	blood:	n/a	chr2:234074790-234074806

Variant related genes	Relation type
INPP5D	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10754947	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28429042	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28459768	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28478933	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28534487	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28539971	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28576692	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28605534	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28609111	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28615641	1.00[ASN][1000 genomes]
rs28631646	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28655385	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28669088	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35349669	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35877172	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4585024	1.00[ASN][1000 genomes]
rs55801407	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62192874	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6431237	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431239	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715767	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737719	1.00[ASN][1000 genomes]
rs67498812	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7558417	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559212	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7568027	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7568389	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570320	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577360	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581787	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597763	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607812	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234052400-234074400	Weak transcription	Colonic Mucosa	Colon
2	chr2:234052600-234088400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:234053400-234077600	Weak transcription	Left Ventricle	heart
4	chr2:234053600-234076800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:234053600-234076800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:234053600-234077000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:234053800-234086000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:234053800-234087800	Strong transcription	Fetal Thymus	thymus
9	chr2:234053800-234093200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:234053800-234110800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:234053800-234113800	Strong transcription	Primary T cells from cord blood	blood
12	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:234054400-234110600	Weak transcription	Small Intestine	intestine
14	chr2:234054600-234076200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:234055200-234113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:234056600-234078400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:234056800-234077400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:234057200-234077000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:234058600-234105400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:234060000-234087800	Weak transcription	NHEK	skin
21	chr2:234061600-234094600	Weak transcription	Brain Anterior Caudate	brain
22	chr2:234061800-234087600	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:234062000-234108400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:234062600-234084600	Strong transcription	GM12878-XiMat	blood
25	chr2:234065400-234075400	Strong transcription	HepG2	liver
26	chr2:234067400-234074600	Weak transcription	HUVEC	blood vessel
27	chr2:234067800-234078400	Weak transcription	Right Ventricle	heart
28	chr2:234069800-234083400	Strong transcription	Thymus	Thymus
29	chr2:234070200-234075400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:234070200-234076000	Strong transcription	Dnd41	blood
31	chr2:234070600-234077000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:234070800-234074400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:234071400-234075400	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr2:234071400-234079200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:234072200-234075200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:234072400-234075200	Genic enhancers	Placenta	Placenta
37	chr2:234072400-234075400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:234072400-234075400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr2:234072400-234077000	Weak transcription	Liver	Liver
40	chr2:234072800-234074600	Weak transcription	Fetal Stomach	stomach
41	chr2:234072800-234075000	Genic enhancers	Esophagus	oesophagus
42	chr2:234072800-234075200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:234072800-234075400	Genic enhancers	Spleen	Spleen
44	chr2:234073000-234075200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr2:234073000-234075200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:234073200-234074400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:234073200-234074400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:234073200-234074600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:234073200-234075000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr2:234073200-234075400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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