Variant report

Variant	rs7568487
Chromosome Location	chr2:178354311-178354312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178348992..178351222-chr2:178354077..178355927,2	K562	blood:
2	chr2:178354261..178355087-chr2:178589085..178589968,5	MCF-7	breast:
3	chr2:178354172..178355030-chr2:178589245..178590053,2	K562	blood:
4	chr2:178353905..178355272-chr2:178468726..178469827,6	MCF-7	breast:
5	chr2:178199438..178200292-chr2:178354145..178354924,2	K562	blood:
6	chr2:178354274..178355113-chr2:178468858..178469375,2	K562	blood:
7	chr2:178220132..178221917-chr2:178353594..178356359,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16865334	1.00[MEX][hapmap]
rs28576781	0.85[AMR][1000 genomes]
rs4893953	1.00[ASW][hapmap];0.81[MKK][hapmap]
rs6726942	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73025657	0.83[AMR][1000 genomes]
rs73025664	1.00[AMR][1000 genomes]
rs73025688	1.00[AMR][1000 genomes]
rs73025689	1.00[AMR][1000 genomes]
rs73029113	0.83[AMR][1000 genomes]
rs73029114	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73029117	0.83[AMR][1000 genomes]
rs73031241	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031244	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73031249	0.85[AMR][1000 genomes]
rs73031280	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032752	0.88[AFR][1000 genomes]
rs73032764	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7573086	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178296400-178397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:178298800-178357800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:178299400-178357800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:178330800-178356800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:178331000-178354600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:178331000-178357800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:178331000-178357800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:178331000-178361600	Weak transcription	Brain Substantia Nigra	brain
9	chr2:178331000-178378600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:178331200-178355000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:178331200-178358000	Weak transcription	Brain Angular Gyrus	brain
12	chr2:178331200-178378600	Weak transcription	Placenta	Placenta
13	chr2:178331200-178379200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:178331400-178388400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:178331600-178357800	Weak transcription	Colonic Mucosa	Colon
16	chr2:178331600-178385600	Weak transcription	Spleen	Spleen
17	chr2:178331800-178360600	Weak transcription	Lung	lung
18	chr2:178331800-178373800	Weak transcription	Gastric	stomach
19	chr2:178331800-178375800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:178331800-178375800	Weak transcription	Pancreas	Pancrea
21	chr2:178331800-178389400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:178332000-178392800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:178332000-178393800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:178332800-178356800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:178335000-178410600	Weak transcription	Thymus	Thymus
26	chr2:178337400-178356800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:178337400-178357800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:178337400-178358000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr2:178337600-178386200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:178338000-178403000	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:178338200-178357800	Weak transcription	Fetal Intestine Large	intestine
32	chr2:178339000-178359800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:178339400-178357800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:178339800-178394400	Weak transcription	Hela-S3	cervix
35	chr2:178340200-178358000	Weak transcription	Aorta	Aorta
36	chr2:178340200-178358000	Weak transcription	HSMMtube	muscle
37	chr2:178341800-178354400	Weak transcription	Fetal Kidney	kidney
38	chr2:178342400-178357800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:178342400-178392000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:178342600-178391000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:178343000-178358000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:178343200-178357800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:178343200-178358000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:178343400-178354600	Weak transcription	Fetal Lung	lung
45	chr2:178343800-178379400	Weak transcription	NHEK	skin
46	chr2:178343800-178391200	Weak transcription	HMEC	breast
47	chr2:178344000-178357800	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:178344000-178374000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr2:178344200-178358000	Weak transcription	Fetal Thymus	thymus
50	chr2:178344200-178371000	Weak transcription	A549	lung

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