Variant report

Variant	rs6966431
Chromosome Location	chr7:108117801-108117802
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:108116534..108119287-chr7:108165768..108167593,2	K562	blood:

Variant related genes	Relation type
ENSG00000135241	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10225561	0.83[CHB][hapmap]
rs10273997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10278246	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1034825	0.86[CEU][hapmap];0.84[CHB][hapmap]
rs1034829	0.86[CEU][hapmap];0.84[CHB][hapmap];0.82[EUR][1000 genomes]
rs13244602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1473131	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17339110	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1859769	0.91[EUR][1000 genomes]
rs1859771	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1859772	1.00[CEU][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1859773	0.83[CHB][hapmap]
rs1859774	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1859775	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs194585	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs194586	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2074752	0.83[ASN][1000 genomes]
rs2214916	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2284291	0.85[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs2284292	0.82[EUR][1000 genomes]
rs2300053	0.86[CEU][hapmap];0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs2396001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763462	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3815252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40846	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs40849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40890	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40892	0.83[CHB][hapmap]
rs40903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs40922	0.85[YRI][hapmap]
rs6466239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6466240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6976478	0.86[EUR][1000 genomes]
rs726471	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73426110	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7800334	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7806223	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs917251	0.86[CEU][hapmap];0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs9640707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9785006	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	esv2753284	chr7:108105345-108130214	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108097200-108118000	Weak transcription	Aorta	Aorta
2	chr7:108098200-108140600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:108101000-108119200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:108102400-108129600	Weak transcription	Pancreas	Pancrea
5	chr7:108102400-108137000	Weak transcription	NH-A	brain
6	chr7:108102400-108143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:108102600-108118200	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:108102800-108126400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr7:108102800-108158400	Weak transcription	HSMMtube	muscle
10	chr7:108105800-108158000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr7:108106200-108150800	Weak transcription	NHLF	lung
12	chr7:108106600-108127600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:108106800-108130000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:108107600-108141000	Weak transcription	Spleen	Spleen
15	chr7:108108600-108122000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:108108800-108118200	Weak transcription	Right Ventricle	heart
17	chr7:108108800-108118600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:108109000-108119200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:108109000-108126400	Weak transcription	HUVEC	blood vessel
20	chr7:108109000-108129000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:108109000-108136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:108109000-108141400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:108109000-108162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:108109600-108127600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:108109600-108140600	Weak transcription	Esophagus	oesophagus
26	chr7:108109600-108143400	Weak transcription	GM12878-XiMat	blood
27	chr7:108110000-108118000	Weak transcription	Ovary	ovary
28	chr7:108110200-108127800	Weak transcription	Fetal Brain Female	brain
29	chr7:108110800-108121000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:108111000-108137800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr7:108111400-108142200	Strong transcription	Liver	Liver
32	chr7:108111400-108154800	Weak transcription	NHEK	skin
33	chr7:108111600-108118600	Weak transcription	HMEC	breast
34	chr7:108111600-108119400	Weak transcription	HSMM	muscle
35	chr7:108111600-108138400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:108111600-108142600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:108111800-108143600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr7:108112000-108118000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:108112000-108118000	Weak transcription	Lung	lung
40	chr7:108112600-108118000	Weak transcription	Fetal Intestine Small	intestine
41	chr7:108112800-108118000	Weak transcription	Brain Germinal Matrix	brain
42	chr7:108113000-108119000	Weak transcription	Brain Angular Gyrus	brain
43	chr7:108113200-108118200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:108113200-108122200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:108113200-108157000	Weak transcription	Psoas Muscle	Psoas
46	chr7:108113600-108118000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr7:108113600-108118600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:108113600-108129800	Weak transcription	Hela-S3	cervix
49	chr7:108113600-108140000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:108113800-108118000	Weak transcription	Fetal Stomach	stomach

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