Variant report

Variant	rs6975450
Chromosome Location	chr7:103011509-103011510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103010338..103013174-chr7:103051030..103053015,2	K562	blood:
2	chr7:102937192..102939533-chr7:103011262..103013265,2	MCF-7	breast:
3	chr7:103009870..103012490-chr7:103026042..103028521,2	K562	blood:
4	chr7:102998363..103000143-chr7:103011384..103014168,2	K562	blood:
5	chr7:103002267..103005655-chr7:103007426..103011602,5	MCF-7	breast:
6	chr7:103005337..103007018-chr7:103010875..103013164,2	K562	blood:

Variant related genes	Relation type
ENSG00000105819	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10234363	0.98[EUR][1000 genomes]
rs10242349	0.98[EUR][1000 genomes]
rs10249921	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10279441	0.98[EUR][1000 genomes]
rs1476678	1.00[GIH][hapmap]
rs17136070	0.86[EUR][1000 genomes]
rs17156420	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs1968196	0.93[EUR][1000 genomes]
rs1968197	0.89[EUR][1000 genomes]
rs28375913	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs28397594	0.91[EUR][1000 genomes]
rs28675125	0.98[EUR][1000 genomes]
rs3864442	0.93[EUR][1000 genomes]
rs3959192	0.86[EUR][1000 genomes]
rs4286873	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs57770439	0.86[EUR][1000 genomes]
rs58202498	0.86[EUR][1000 genomes]
rs58418722	0.93[EUR][1000 genomes]
rs58443652	0.91[EUR][1000 genomes]
rs59245803	0.86[EUR][1000 genomes]
rs60020835	0.86[EUR][1000 genomes]
rs60080018	0.86[EUR][1000 genomes]
rs60366734	0.86[EUR][1000 genomes]
rs60383417	0.86[EUR][1000 genomes]
rs6942876	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs6960317	0.82[EUR][1000 genomes]
rs6978467	0.82[EUR][1000 genomes]
rs6978540	0.80[EUR][1000 genomes]
rs6978608	0.82[EUR][1000 genomes]
rs6979451	0.82[EUR][1000 genomes]
rs7789727	0.89[EUR][1000 genomes]
rs7801094	0.89[EUR][1000 genomes]
rs7810936	0.91[EUR][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	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102989200-103013200	Weak transcription	Stomach Mucosa	stomach
2	chr7:102989800-103021200	Weak transcription	Fetal Heart	heart
3	chr7:102991400-103011600	Strong transcription	Fetal Thymus	thymus
4	chr7:103005000-103014800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:103008800-103012400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:103009000-103011600	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:103009000-103012000	Weak transcription	Primary B cells from cord blood	blood
8	chr7:103009000-103012600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:103009000-103013000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:103009000-103013000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:103009000-103013000	Weak transcription	Brain Angular Gyrus	brain
12	chr7:103009000-103013400	Weak transcription	Ovary	ovary
13	chr7:103009000-103014800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:103009000-103014800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:103009000-103014800	Weak transcription	Aorta	Aorta
16	chr7:103009000-103014800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr7:103009000-103014800	Weak transcription	Right Ventricle	heart
18	chr7:103009000-103014800	Weak transcription	A549	lung
19	chr7:103009000-103017200	Weak transcription	Fetal Brain Male	brain
20	chr7:103009000-103019400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:103009000-103021000	Weak transcription	Gastric	stomach
22	chr7:103009000-103021000	Weak transcription	Pancreas	Pancrea
23	chr7:103009000-103021200	Weak transcription	Fetal Lung	lung
24	chr7:103009000-103029200	Weak transcription	Spleen	Spleen
25	chr7:103009200-103011800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:103009200-103012000	Weak transcription	HSMMtube	muscle
27	chr7:103009200-103012200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:103009200-103012600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr7:103009200-103013000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr7:103009200-103014200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:103009200-103014600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:103009200-103014800	Weak transcription	Primary T cells from cord blood	blood
33	chr7:103009200-103015400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:103009200-103018000	Weak transcription	Brain Substantia Nigra	brain
35	chr7:103009200-103020800	Weak transcription	HepG2	liver
36	chr7:103009400-103011600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:103009400-103011800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:103009400-103012800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:103009400-103012800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr7:103009400-103013000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr7:103009600-103013000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:103009600-103014800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:103010000-103019000	Weak transcription	K562	blood
44	chr7:103010200-103011800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:103010200-103011800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:103010200-103011800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:103010200-103011800	Weak transcription	Brain Anterior Caudate	brain
48	chr7:103010200-103011800	Weak transcription	Placenta	Placenta
49	chr7:103010200-103012000	Weak transcription	HUVEC	blood vessel
50	chr7:103010200-103012400	Weak transcription	Fetal Kidney	kidney

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