Variant report

Variant	rs1267636
Chromosome Location	chr7:140492039-140492040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140485728..140487377-chr7:140491340..140494187,2	K562	blood:
2	chr7:140486692..140490040-chr7:140490086..140493321,3	K562	blood:
3	chr7:140490975..140492582-chr7:140495499..140497183,2	MCF-7	breast:

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10241711	0.88[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10242534	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10247116	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10251628	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10269699	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1046515	0.83[EUR][1000 genomes]
rs1140034	0.81[CHB][hapmap]
rs12375245	0.83[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs1267600	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267601	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267606	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1267609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267614	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267617	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267619	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1267620	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1267621	0.86[MEX][hapmap]
rs1267633	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1267638	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[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];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1267639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1267640	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1267642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1267643	1.00[CHB][hapmap]
rs1267644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1267649	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1270193	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1639675	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1639678	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1639679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161666	0.88[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs17161668	0.83[EUR][1000 genomes]
rs17161737	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17161750	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17161767	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1733827	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[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];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1733832	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1812162	0.83[EUR][1000 genomes]
rs2245716	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2364393	0.81[CHB][hapmap]
rs2364394	0.81[CHB][hapmap]
rs2364396	0.88[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes]
rs2364397	0.83[CHB][hapmap]
rs2364398	0.92[GIH][hapmap];0.97[LWK][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2365097	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2365098	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2535947	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2535951	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[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];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28577882	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28579189	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2968550	0.83[CHB][hapmap]
rs2968553	0.83[CHB][hapmap]
rs2968559	0.81[CHB][hapmap]
rs4725799	0.82[EUR][1000 genomes]
rs4727011	0.81[CHB][hapmap]
rs4727021	0.82[EUR][1000 genomes]
rs4727036	0.83[EUR][1000 genomes]
rs4727040	0.88[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs4727041	0.88[CEU][hapmap];0.83[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes]
rs4727053	0.85[EUR][1000 genomes]
rs6464036	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6464121	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6464123	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6464149	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6464937	0.81[CHB][hapmap]
rs6464984	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6949396	0.92[EUR][1000 genomes]
rs6962426	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6967652	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6969779	0.85[EUR][1000 genomes]
rs6970121	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6975596	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73489531	0.85[EUR][1000 genomes]
rs73489562	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73491672	0.83[EUR][1000 genomes]
rs73491871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73497923	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73497924	0.88[ASN][1000 genomes]
rs73502717	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73502740	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73502747	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73502785	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73502799	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7787206	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7792746	0.81[CHB][hapmap];0.82[GIH][hapmap]
rs7803697	0.83[CHB][hapmap]
rs9655610	0.85[AMR][1000 genomes];0.94[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	esv3351231	chr7:140390303-140588539	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv831158	chr7:140392222-140602315	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv869260	chr7:140404835-140542905	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1267636	BRAF	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140398200-140492600	Weak transcription	Colonic Mucosa	Colon
2	chr7:140404800-140517000	Weak transcription	Psoas Muscle	Psoas
3	chr7:140415000-140504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:140415200-140506600	Weak transcription	Gastric	stomach
5	chr7:140440600-140492600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:140441400-140504000	Weak transcription	NHLF	lung
7	chr7:140452400-140506200	Weak transcription	Pancreas	Pancrea
8	chr7:140464800-140495600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:140465600-140500400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:140465800-140508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:140466600-140494600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:140467000-140505000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:140469000-140499600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:140469000-140503000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:140469000-140511200	Weak transcription	Right Ventricle	heart
16	chr7:140469200-140519600	Weak transcription	Aorta	Aorta
17	chr7:140470800-140504800	Weak transcription	NHEK	skin
18	chr7:140471400-140494600	Strong transcription	Adipose Nuclei	Adipose
19	chr7:140472800-140502000	Weak transcription	HMEC	breast
20	chr7:140473600-140513600	Weak transcription	Fetal Heart	heart
21	chr7:140474600-140511000	Weak transcription	Brain Substantia Nigra	brain
22	chr7:140475000-140509800	Weak transcription	Spleen	Spleen
23	chr7:140475000-140580200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:140475600-140494400	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:140475600-140499600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:140475800-140492600	Weak transcription	HSMM	muscle
27	chr7:140477000-140500000	Weak transcription	Esophagus	oesophagus
28	chr7:140477200-140511200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:140477400-140492800	Weak transcription	Thymus	Thymus
30	chr7:140477400-140497200	Weak transcription	A549	lung
31	chr7:140477400-140510800	Weak transcription	Ovary	ovary
32	chr7:140477600-140492800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:140477800-140499600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr7:140478000-140492800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr7:140479000-140492600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:140479000-140505200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:140479200-140492200	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:140479600-140492800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:140479600-140502800	Weak transcription	Brain Germinal Matrix	brain
40	chr7:140479600-140510800	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:140479600-140511200	Weak transcription	Lung	lung
42	chr7:140479600-140559000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr7:140479800-140502200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:140479800-140508200	Weak transcription	HSMMtube	muscle
45	chr7:140479800-140511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:140481000-140500200	Weak transcription	HUVEC	blood vessel
47	chr7:140481600-140492200	Weak transcription	NH-A	brain
48	chr7:140482600-140492400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:140483000-140492200	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:140483000-140492200	Weak transcription	NHDF-Ad	bronchial

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