Variant report

Variant	rs7687368
Chromosome Location	chr4:148599631-148599632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148597655..148600823-chr4:148603696..148605764,3	K562	blood:
2	chr4:148599527..148601121-chr4:148603079..148606099,3	MCF-7	breast:
3	chr4:148598811..148600508-chr4:148603505..148605954,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164169	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10015717	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1005871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10519911	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11099668	0.91[ASN][1000 genomes]
rs12507247	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12510847	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12510915	0.84[ASN][1000 genomes]
rs13108782	0.99[ASN][1000 genomes]
rs17023732	0.82[CHB][hapmap];1.00[GIH][hapmap]
rs17675572	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2036498	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2036500	0.88[ASN][1000 genomes]
rs2036501	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2357926	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2358097	0.82[CHB][hapmap]
rs2654937	0.94[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2654938	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2654940	0.88[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.91[ASN][1000 genomes]
rs2654941	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2654948	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2654949	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2718447	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2718448	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2718449	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2718452	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2718453	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2718454	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2718455	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2718457	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2718458	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2884383	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379049	0.82[CHB][hapmap]
rs4835441	0.96[ASN][1000 genomes]
rs4835445	0.98[ASN][1000 genomes]
rs57690385	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60862021	0.83[ASN][1000 genomes]
rs6535552	0.99[ASN][1000 genomes]
rs6535553	0.98[ASN][1000 genomes]
rs6535554	0.98[ASN][1000 genomes]
rs6535555	0.93[ASN][1000 genomes]
rs6810521	0.93[ASN][1000 genomes]
rs6828566	0.92[ASN][1000 genomes]
rs6841745	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6845224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6845592	0.83[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.89[ASN][1000 genomes]
rs6846220	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[ASN][1000 genomes]
rs7655893	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7660361	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7664244	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7666065	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672671	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7675850	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7678612	0.92[ASN][1000 genomes]
rs7690974	0.97[ASN][1000 genomes]
rs884761	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs905607	0.91[ASN][1000 genomes]
rs924783	0.97[ASN][1000 genomes]
rs9993863	0.83[ASN][1000 genomes]
rs9998065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv3329646	chr4:148590774-148611959	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148548400-148599800	Weak transcription	Gastric	stomach
2	chr4:148548600-148604400	Weak transcription	Esophagus	oesophagus
3	chr4:148549000-148599800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:148551400-148603600	Weak transcription	Hela-S3	cervix
5	chr4:148554600-148604600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:148556000-148603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr4:148557400-148603800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr4:148557800-148603800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:148558200-148603800	Weak transcription	A549	lung
10	chr4:148558400-148603800	Weak transcription	HUVEC	blood vessel
11	chr4:148562800-148603800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:148562800-148604200	Weak transcription	Right Ventricle	heart
13	chr4:148563600-148604400	Weak transcription	Pancreas	Pancrea
14	chr4:148563800-148599800	Weak transcription	Spleen	Spleen
15	chr4:148565000-148602200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:148568400-148603800	Weak transcription	Fetal Kidney	kidney
17	chr4:148568800-148600400	Weak transcription	Psoas Muscle	Psoas
18	chr4:148569400-148604000	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:148570400-148604200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:148571600-148603800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:148575600-148599800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:148575600-148604000	Weak transcription	Brain Substantia Nigra	brain
23	chr4:148576400-148603800	Weak transcription	Small Intestine	intestine
24	chr4:148577000-148604400	Weak transcription	Aorta	Aorta
25	chr4:148577200-148604000	Weak transcription	Colonic Mucosa	Colon
26	chr4:148577400-148604600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:148577600-148599800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:148577600-148600200	Weak transcription	Lung	lung
29	chr4:148577600-148603800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:148577600-148603800	Weak transcription	Brain Anterior Caudate	brain
31	chr4:148577600-148604200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:148579600-148603800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:148579600-148603800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:148580000-148603800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:148580000-148603800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:148581800-148599800	Weak transcription	Brain Angular Gyrus	brain
37	chr4:148581800-148604600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:148582000-148601800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:148582800-148603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:148583400-148604000	Weak transcription	Fetal Heart	heart
41	chr4:148583800-148600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:148583800-148603800	Weak transcription	Ovary	ovary
43	chr4:148585800-148603800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:148585800-148603800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr4:148585800-148604400	Weak transcription	Left Ventricle	heart
46	chr4:148587200-148603800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr4:148589000-148603800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr4:148589800-148603800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:148591400-148603800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:148593200-148603800	Weak transcription	Rectal Mucosa Donor 31	rectum

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