Variant report

Variant	rs7004993
Chromosome Location	chr8:99045075-99045076
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99044015..99047319-chr8:99128831..99131004,3	MCF-7	breast:
2	chr8:98882384..98885458-chr8:99044615..99046951,3	MCF-7	breast:
3	chr8:98974372..98976072-chr8:99045013..99046832,2	K562	blood:

Variant related genes	Relation type
ENSG00000132541	Chromatin interaction
ENSG00000104356	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10098159	1.00[ASN][1000 genomes]
rs10955141	1.00[ASN][1000 genomes]
rs10955142	1.00[ASN][1000 genomes]
rs10955145	0.92[ASN][1000 genomes]
rs10955146	1.00[ASN][1000 genomes]
rs10955147	0.86[ASN][1000 genomes]
rs11559201	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11559202	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776602	1.00[ASN][1000 genomes]
rs11777189	1.00[ASN][1000 genomes]
rs11784449	1.00[ASN][1000 genomes]
rs11785807	1.00[ASN][1000 genomes]
rs11990341	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11991161	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996042	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997426	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12544193	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549802	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549967	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550104	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13248865	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254615	1.00[ASN][1000 genomes]
rs13254737	1.00[ASN][1000 genomes]
rs13255477	1.00[ASN][1000 genomes]
rs13265127	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13268951	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13274382	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279197	1.00[ASN][1000 genomes]
rs13439743	1.00[ASN][1000 genomes]
rs16896517	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279120	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290467	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290468	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290469	1.00[ASN][1000 genomes]
rs3088121	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139241	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34276726	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899856	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35417638	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758031	0.97[ASN][1000 genomes]
rs55779959	1.00[ASN][1000 genomes]
rs56137923	1.00[ASN][1000 genomes]
rs57866232	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324498	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68116021	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68131553	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6985709	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986891	1.00[ASN][1000 genomes]
rs6987112	1.00[ASN][1000 genomes]
rs7012838	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016999	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71514975	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72678742	0.99[EUR][1000 genomes];1.00[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99021200-99053600	Weak transcription	A549	lung
2	chr8:99022400-99055200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:99024000-99054800	Weak transcription	Right Ventricle	heart
4	chr8:99024200-99055000	Weak transcription	Fetal Brain Male	brain
5	chr8:99024200-99056000	Weak transcription	Spleen	Spleen
6	chr8:99025000-99052800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:99025200-99045400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:99025400-99045200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:99027600-99045400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:99028800-99045400	Weak transcription	Fetal Brain Female	brain
11	chr8:99029000-99053600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr8:99030000-99045200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:99030600-99053400	Weak transcription	Pancreas	Pancrea
14	chr8:99030600-99056800	Weak transcription	Aorta	Aorta
15	chr8:99030800-99046400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:99031000-99055400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:99032200-99045800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:99032400-99046800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:99033600-99045400	Weak transcription	HSMM	muscle
20	chr8:99033800-99045600	Weak transcription	Thymus	Thymus
21	chr8:99033800-99045600	Weak transcription	HMEC	breast
22	chr8:99033800-99054800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:99033800-99055200	Weak transcription	Small Intestine	intestine
24	chr8:99033800-99055600	Weak transcription	Left Ventricle	heart
25	chr8:99034000-99045800	Weak transcription	GM12878-XiMat	blood
26	chr8:99034200-99050800	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:99034200-99054200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:99034200-99054800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:99035400-99047200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr8:99035600-99045200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:99035600-99046000	Strong transcription	Fetal Muscle Leg	muscle
32	chr8:99036000-99047400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:99036400-99048600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:99036800-99053200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:99037200-99049200	Weak transcription	Brain Anterior Caudate	brain
36	chr8:99037200-99053200	Weak transcription	Fetal Intestine Small	intestine
37	chr8:99037600-99045400	Weak transcription	Primary B cells from cord blood	blood
38	chr8:99037600-99045400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr8:99037600-99052400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:99037600-99054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:99037600-99056400	Weak transcription	Lung	lung
42	chr8:99038000-99047200	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr8:99039000-99048800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr8:99039200-99053000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:99040200-99048600	Weak transcription	NHLF	lung
46	chr8:99040400-99046800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr8:99040400-99047000	Strong transcription	Primary T cells from cord blood	blood
48	chr8:99041200-99048800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:99041400-99053600	Weak transcription	Psoas Muscle	Psoas
50	chr8:99041600-99045600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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