Variant report

Variant	rs6715767
Chromosome Location	chr2:234074817-234074818
allele	A/G
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	EP300	chr2:234074269-234075577	ECC-1	luminal epithelium:	n/a	chr2:234074637-234074646
2	TEAD4	chr2:234074445-234074902	K562	blood:	n/a	n/a
3	TCF12	chr2:234074439-234075392	ECC-1	luminal epithelium:	n/a	chr2:234074800-234074810
4	MAX	chr2:234071928-234075346	NB4	blood:	n/a	chr2:234074788-234074797
5	MAX	chr2:234074303-234075340	ECC-1	luminal epithelium:	n/a	chr2:234074788-234074797
6	MAX	chr2:234074444-234074920	K562	blood:	n/a	chr2:234074788-234074797
7	CHD2	chr2:234074433-234075155	Hela-S3	cervix:	n/a	chr2:234074569-234074579
8	CEBPB	chr2:234074476-234074837	K562	blood:	n/a	n/a
9	ELF1	chr2:234074384-234074977	K562	blood:	n/a	chr2:234074634-234074647 chr2:234074635-234074646
10	SMARCB1	chr2:234074438-234075342	Hela-S3	cervix:	n/a	n/a
11	MYC	chr2:234074515-234075084	K562	blood:	n/a	chr2:234074788-234074797
12	POLR2A	chr2:234074817-234075128	Hela-S3	cervix:	n/a	n/a
13	GTF2F1	chr2:234074525-234075200	Hela-S3	cervix:	n/a	n/a
14	HCFC1	chr2:234074638-234074870	K562	blood:	n/a	n/a
15	CBX3	chr2:234074134-234074968	K562	blood:	n/a	n/a
16	NFIC	chr2:234074417-234075572	ECC-1	luminal epithelium:	n/a	n/a
17	NFIC	chr2:234074506-234075466	ECC-1	luminal epithelium:	n/a	n/a
18	CEBPB	chr2:234074469-234075223	Hela-S3	cervix:	n/a	n/a
19	EGR1	chr2:234074433-234075381	ECC-1	luminal epithelium:	n/a	chr2:234075089-234075102 chr2:234074786-234074799 chr2:234074578-234074602 chr2:234074781-234074803 chr2:234074785-234074799 chr2:234074917-234074932 chr2:234074784-234074794
20	MAX	chr2:234074317-234075505	ECC-1	luminal epithelium:	n/a	chr2:234074788-234074797
21	FOXP2	chr2:234074649-234074852	PFSK-1	brain:	n/a	n/a
22	TFAP2C	chr2:234074470-234075466	Hela-S3	cervix:	n/a	chr2:234075266-234075281
23	MXI1	chr2:234074637-234074817	K562	blood:	n/a	n/a
24	RFX5	chr2:234074610-234075219	Hela-S3	cervix:	n/a	chr2:234074806-234074815 chr2:234074802-234074816
25	POLR2A	chr2:234074256-234075288	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr2:234073423-234075442	GM12878	blood:	n/a	n/a
27	MYC	chr2:234074540-234074845	MCF10A-Er-Src	breast:	n/a	chr2:234074788-234074797
28	MAFK	chr2:234074627-234074886	Hela-S3	cervix:	n/a	n/a
29	TCF7L2	chr2:234074467-234075310	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr2:234074347-234075469	ECC-1	luminal epithelium:	n/a	chr2:234074800-234074810
31	RAD21	chr2:234074439-234075258	Hela-S3	cervix:	n/a	chr2:234074559-234074572
32	STAT5A	chr2:234073714-234075327	GM12878	blood:	n/a	chr2:234075286-234075298
33	RAD21	chr2:234074467-234075380	ECC-1	luminal epithelium:	n/a	chr2:234074559-234074572
34	ESR1	chr2:234074615-234075240	ECC-1	luminal epithelium:	n/a	n/a
35	CCNT2	chr2:234074525-234074925	K562	blood:	n/a	n/a
36	EP300	chr2:234074483-234075371	ECC-1	luminal epithelium:	n/a	chr2:234074637-234074646
37	ZKSCAN1	chr2:234074789-234075183	Hela-S3	cervix:	n/a	n/a
38	TBL1XR1	chr2:234074231-234074890	K562	blood:	n/a	n/a
39	EGR1	chr2:234074396-234075192	HCT-116	colon:	n/a	chr2:234075089-234075102 chr2:234074786-234074799 chr2:234074578-234074602 chr2:234074781-234074803 chr2:234074785-234074799 chr2:234074917-234074932 chr2:234074784-234074794
40	MYC	chr2:234074441-234074956	K562	blood:	n/a	chr2:234074788-234074797
41	MAX	chr2:234074355-234074935	K562	blood:	n/a	chr2:234074788-234074797
42	NR2F2	chr2:234074523-234074974	K562	blood:	n/a	n/a
43	POLR2A	chr2:234074561-234075003	K562	blood:	n/a	n/a
44	EGR1	chr2:234074546-234075005	K562	blood:	n/a	chr2:234074786-234074799 chr2:234074578-234074602 chr2:234074781-234074803 chr2:234074785-234074799 chr2:234074917-234074932 chr2:234074784-234074794
45	POLR2A	chr2:234071347-234075464	NB4	blood:	n/a	n/a
46	ZMIZ1	chr2:234074575-234074856	K562	blood:	n/a	n/a
47	EP300	chr2:234074424-234074893	K562	blood:	n/a	chr2:234074637-234074646
48	POLR2A	chr2:234074501-234075410	ECC-1	luminal epithelium:	n/a	n/a
49	MYC	chr2:234071722-234075200	NB4	blood:	n/a	chr2:234074788-234074797
50	STAT3	chr2:234074595-234075080	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
INPP5D	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10754947	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694926	0.82[AMR][1000 genomes]
rs12694928	0.84[AMR][1000 genomes]
rs13388142	0.82[AMR][1000 genomes]
rs28429042	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28459768	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28478933	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28534487	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28539971	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28576692	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28605534	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28609111	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28615641	1.00[ASN][1000 genomes]
rs28631646	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28655385	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28669088	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35349669	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35877172	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4585024	1.00[ASN][1000 genomes]
rs55801407	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62192874	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6431237	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6431239	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737719	1.00[ASN][1000 genomes]
rs67498812	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7558417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559212	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7568027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7568389	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7570320	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577360	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581787	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597516	0.84[AMR][1000 genomes]
rs7597763	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7607736	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]
rs7607812	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234052600-234088400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:234053400-234077600	Weak transcription	Left Ventricle	heart
3	chr2:234053600-234076800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:234053600-234076800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:234053600-234077000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:234053800-234086000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:234053800-234087800	Strong transcription	Fetal Thymus	thymus
8	chr2:234053800-234093200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:234053800-234110800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:234053800-234113800	Strong transcription	Primary T cells from cord blood	blood
11	chr2:234053800-234118000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:234054400-234110600	Weak transcription	Small Intestine	intestine
13	chr2:234054600-234076200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:234055200-234113400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:234056600-234078400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:234056800-234077400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:234057200-234077000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:234058600-234105400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:234060000-234087800	Weak transcription	NHEK	skin
20	chr2:234061600-234094600	Weak transcription	Brain Anterior Caudate	brain
21	chr2:234061800-234087600	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:234062000-234108400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:234062600-234084600	Strong transcription	GM12878-XiMat	blood
24	chr2:234065400-234075400	Strong transcription	HepG2	liver
25	chr2:234067800-234078400	Weak transcription	Right Ventricle	heart
26	chr2:234069800-234083400	Strong transcription	Thymus	Thymus
27	chr2:234070200-234075400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:234070200-234076000	Strong transcription	Dnd41	blood
29	chr2:234070600-234077000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:234071400-234075400	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr2:234071400-234079200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:234072200-234075200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:234072400-234075200	Genic enhancers	Placenta	Placenta
34	chr2:234072400-234075400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:234072400-234075400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:234072400-234077000	Weak transcription	Liver	Liver
37	chr2:234072800-234075000	Genic enhancers	Esophagus	oesophagus
38	chr2:234072800-234075200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:234072800-234075400	Genic enhancers	Spleen	Spleen
40	chr2:234073000-234075200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr2:234073000-234075200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:234073200-234075000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr2:234073200-234075400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:234073400-234075200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr2:234073400-234075200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr2:234073400-234075800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr2:234073400-234075800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr2:234073600-234075200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr2:234073800-234075200	Enhancers	Fetal Lung	lung
50	chr2:234073800-234075400	Genic enhancers	HMEC	breast

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