Variant report

Variant	rs7637618
Chromosome Location	chr3:113176122-113176123
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113174583..113177246-chr3:113178980..113181235,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1082588	0.82[AMR][1000 genomes]
rs11537650	0.90[EUR][1000 genomes]
rs12330209	0.85[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap]
rs13082603	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs13092925	0.91[EUR][1000 genomes]
rs1463643	0.92[EUR][1000 genomes]
rs1471883	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1471884	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1552433	0.95[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16861103	0.90[CEU][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs2087130	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs2270782	0.90[CEU][hapmap];0.80[AMR][1000 genomes]
rs2270783	0.85[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap]
rs2270785	0.85[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.90[TSI][hapmap]
rs2291905	0.81[GIH][hapmap];0.87[TSI][hapmap]
rs2399477	0.90[CEU][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes]
rs2399480	0.90[EUR][1000 genomes]
rs2669909	0.95[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2936812	0.82[JPT][hapmap]
rs4396864	0.89[CEU][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes]
rs60634072	0.86[EUR][1000 genomes]
rs6438160	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6769604	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6783387	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6793704	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6805535	0.85[CEU][hapmap]
rs712530	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap]
rs72946748	0.87[EUR][1000 genomes]
rs7618226	0.89[EUR][1000 genomes]
rs7623919	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7628945	0.92[EUR][1000 genomes]
rs7631335	0.92[EUR][1000 genomes]
rs7635676	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7646188	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7650671	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs775214	0.86[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes]
rs775215	0.90[CEU][hapmap]
rs775217	0.82[AMR][1000 genomes]
rs808949	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs808950	0.90[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap]
rs810209	0.90[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes]
rs9842559	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9846539	0.90[EUR][1000 genomes]
rs9852703	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.86[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9854686	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9870996	0.95[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9874747	0.88[EUR][1000 genomes]
rs9877649	0.90[EUR][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7637618	BTLA	cis	cerebellum	SCAN
rs7637618	BOC	cis	parietal	SCAN
rs7637618	BOC	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113074400-113184400	Weak transcription	Hela-S3	cervix
2	chr3:113136000-113176400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:113145800-113176600	Weak transcription	Spleen	Spleen
4	chr3:113146000-113191000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:113146200-113178600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:113147800-113178800	Weak transcription	HSMM	muscle
7	chr3:113156000-113179400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:113160200-113190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:113160400-113186800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:113160400-113188800	Weak transcription	Colonic Mucosa	Colon
11	chr3:113160400-113191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:113160400-113192800	Weak transcription	Stomach Mucosa	stomach
13	chr3:113160600-113178600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:113160600-113179200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:113160600-113181600	Weak transcription	Esophagus	oesophagus
16	chr3:113160600-113188600	Weak transcription	Psoas Muscle	Psoas
17	chr3:113160600-113190600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:113160600-113203800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:113160800-113176600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:113160800-113179000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:113160800-113179000	Weak transcription	Brain Angular Gyrus	brain
22	chr3:113160800-113179000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr3:113160800-113179000	Weak transcription	HMEC	breast
24	chr3:113160800-113181200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:113160800-113187000	Weak transcription	HUVEC	blood vessel
26	chr3:113160800-113187600	Weak transcription	NHLF	lung
27	chr3:113160800-113189400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:113160800-113189400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:113160800-113189600	Weak transcription	NHEK	skin
30	chr3:113160800-113203800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:113160800-113203800	Weak transcription	Aorta	Aorta
32	chr3:113160800-113224800	Weak transcription	Placenta	Placenta
33	chr3:113160800-113232600	Weak transcription	Right Ventricle	heart
34	chr3:113161000-113179000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr3:113161000-113179400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr3:113161000-113181800	Weak transcription	Brain Anterior Caudate	brain
37	chr3:113161000-113189600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:113161000-113189600	Weak transcription	Brain Substantia Nigra	brain
39	chr3:113161000-113190800	Weak transcription	K562	blood
40	chr3:113161400-113192200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr3:113162200-113179000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr3:113164000-113185600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:113165200-113178800	Weak transcription	GM12878-XiMat	blood
44	chr3:113166200-113188800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:113166600-113186400	Weak transcription	A549	lung
46	chr3:113166600-113203800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr3:113166800-113178800	Weak transcription	NH-A	brain
48	chr3:113167000-113179000	Weak transcription	Fetal Kidney	kidney
49	chr3:113168000-113177000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:113168200-113179000	Weak transcription	Brain Cingulate Gyrus	brain

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