Variant report

Variant	rs7696310
Chromosome Location	chr4:174290352-174290353
allele	G/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	GTF3C2	chr4:174290344-174290961	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr4:174290314-174291360	MCF10A-Er-Src	breast:	n/a	chr4:174290496-174290507
3	POLR2A	chr4:174290185-174292362	U87	brain:	n/a	n/a
4	POLR2A	chr4:174290191-174292357	U87	brain:	n/a	n/a
5	MXI1	chr4:174290264-174293641	GM12878	blood:	n/a	chr4:174292730-174292745
6	HCFC1	chr4:174290319-174292858	Hela-S3	cervix:	n/a	n/a
7	MYC	chr4:174290265-174290530	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA2	chr4:174290347-174291098	SH-SY5Y	brain:	n/a	chr4:174290477-174290493
9	NR3C1	chr4:174290305-174290619	A549	lung:	n/a	chr4:174290468-174290484 chr4:174290469-174290483 chr4:174290468-174290484 chr4:174290469-174290483 chr4:174290468-174290484 chr4:174290469-174290483 chr4:174290468-174290484 chr4:174290465-174290486
10	GATA1	chr4:174290340-174291300	PBDE	blood:	n/a	chr4:174290477-174290493
11	FOS	chr4:174290276-174290617	MCF10A-Er-Src	breast:	n/a	n/a
12	CHD1	chr4:174290289-174293585	GM12878	blood:	n/a	chr4:174293022-174293029
13	PML	chr4:174290330-174291414	GM12878	blood:	n/a	n/a
14	MAFK	chr4:174290342-174291275	Hela-S3	cervix:	n/a	chr4:174291233-174291243
15	WRNIP1	chr4:174290345-174292308	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:174290274-174291423	U87	brain:	n/a	n/a
17	POLR2A	chr4:174290325-174292402	GM12891	blood:	n/a	n/a
18	POLR2A	chr4:174290204-174292337	GM12878	blood:	n/a	n/a
19	MYC	chr4:174290094-174291360	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr4:174290284-174291312	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr4:174290243-174290504	MCF10A-Er-Src	breast:	n/a	n/a
22	TBL1XR1	chr4:174290338-174291265	K562	blood:	n/a	n/a
23	MAFK	chr4:174290268-174291198	IMR90	lung:	n/a	n/a
24	SIN3AK20	chr4:174290281-174292421	HCT-116	colon:	n/a	n/a
25	MAFK	chr4:174290256-174290590	K562	blood:	n/a	n/a
26	POLR2A	chr4:174290324-174293556	Hela-S3	cervix:	n/a	n/a
27	MXI1	chr4:174290075-174294902	SK-N-SH	brain:	n/a	chr4:174292730-174292745
28	NR3C1	chr4:174290328-174290610	A549	lung:	n/a	chr4:174290468-174290484 chr4:174290469-174290483 chr4:174290468-174290484 chr4:174290469-174290483 chr4:174290468-174290484 chr4:174290469-174290483 chr4:174290468-174290484 chr4:174290465-174290486
29	CTCF	chr4:174290340-174290490	SK-N-SH_RA	brain:	n/a	n/a
30	GATA3	chr4:174290127-174291405	SK-N-SH	brain:	n/a	chr4:174290477-174290493
31	STAT3	chr4:174289999-174292030	MCF10A-Er-Src	breast:	n/a	chr4:174292013-174292025 chr4:174290496-174290507
32	POLR2A	chr4:174290225-174290582	MCF10A-Er-Src	breast:	n/a	n/a
33	MXI1	chr4:174290160-174294236	IMR90	lung:	n/a	chr4:174292730-174292745
34	FOS	chr4:174290205-174290628	MCF10A-Er-Src	breast:	n/a	n/a
35	CTCF	chr4:174290320-174290470	HCPEpiC	choroid plexus:	n/a	n/a
36	GATA2	chr4:174290325-174291087	HUVEC	blood vessel:	n/a	chr4:174290477-174290493
37	FOS	chr4:174290284-174291236	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr4:174290322-174291360	MCF10A-Er-Src	breast:	n/a	chr4:174290496-174290507
39	GATA3	chr4:174290337-174290661	SH-SY5Y	brain:	n/a	chr4:174290477-174290493

No.	Distal block	Cell Line	Cell type
1	chr4:174252933..174259053-chr4:174284716..174299463,25	MCF-7	breast:
2	chr4:174288821..174291443-chr4:184425915..184428613,2	K562	blood:
3	chr4:174250771..174257645-chr4:174286907..174294441,15	MCF-7	breast:
4	chr4:174248778..174262653-chr4:174278408..174298501,82	K562	blood:
5	chr4:174245727..174260507-chr4:174283013..174295498,65	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SAP30-8	chr4:174289734-174290819	NONHSAT099240
2	lnc-SCRG1-1	chr4:174289046-174290966	ENSG00000272870.1

Variant related genes	Relation type
SAP30	TF binding region
ENSG00000168556	Chromatin interaction
ENSG00000248774	Chromatin interaction
ENSG00000164104	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10005846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10019585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10025290	0.82[EUR][1000 genomes]
rs10213665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10866367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11723871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12504141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12505441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1383629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1585947	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1585948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1947878	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1987522	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2062018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2288245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2332670	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2332671	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4645199	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4695831	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4695832	0.88[ASN][1000 genomes]
rs4695833	1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[ASN][1000 genomes]
rs4696057	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696059	1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4696062	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6822239	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6826267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6849068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7655155	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7670317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7698574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7699673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs965931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs965932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs967379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9996063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174259200-174290400	Weak transcription	Thymus	Thymus
2	chr4:174282400-174290400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:174287000-174290400	Weak transcription	Stomach Mucosa	stomach
4	chr4:174287000-174290600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:174287200-174290400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:174287600-174290400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:174287600-174290400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:174287600-174290400	Weak transcription	Fetal Thymus	thymus
9	chr4:174287600-174290400	Weak transcription	Left Ventricle	heart
10	chr4:174287600-174290600	Weak transcription	Gastric	stomach
11	chr4:174288400-174290400	Flanking Active TSS	Dnd41	blood
12	chr4:174288600-174292200	Active TSS	Brain Germinal Matrix	brain
13	chr4:174289000-174294800	Active TSS	Stomach Smooth Muscle	stomach
14	chr4:174289200-174295600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:174289400-174290400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:174289400-174290400	Weak transcription	Psoas Muscle	Psoas
17	chr4:174289400-174290400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:174289400-174294200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:174289400-174294400	Active TSS	Aorta	Aorta
20	chr4:174289400-174294600	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr4:174289400-174294800	Active TSS	Brain Angular Gyrus	brain
22	chr4:174289600-174293800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:174289600-174294600	Active TSS	Fetal Brain Female	brain
24	chr4:174289600-174294600	Active TSS	K562	blood
25	chr4:174289600-174296000	Active TSS	GM12878-XiMat	blood
26	chr4:174290000-174290400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:174290000-174290400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:174290000-174290400	Active TSS	HMEC	breast
29	chr4:174290000-174290800	Flanking Active TSS	HUVEC	blood vessel
30	chr4:174290000-174293800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr4:174290000-174294400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:174290000-174294800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr4:174290200-174290400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr4:174290200-174290400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr4:174290200-174290400	Enhancers	Primary B cells from peripheral blood	blood
36	chr4:174290200-174290400	Enhancers	Primary T cells from cord blood	blood
37	chr4:174290200-174290400	Active TSS	Primary hematopoietic stem cells	blood
38	chr4:174290200-174290400	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr4:174290200-174290400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr4:174290200-174290400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr4:174290200-174290400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr4:174290200-174290400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr4:174290200-174290400	Enhancers	Adipose Nuclei	Adipose
44	chr4:174290200-174290400	Enhancers	Liver	Liver
45	chr4:174290200-174290400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr4:174290200-174290400	Active TSS	Brain Substantia Nigra	brain
47	chr4:174290200-174290400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr4:174290200-174290400	Active TSS	Fetal Muscle Leg	muscle
49	chr4:174290200-174290400	Active TSS	NHEK	skin
50	chr4:174290200-174290400	Flanking Active TSS	Osteobl	bone

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