Variant report

Variant	rs2058722
Chromosome Location	chr7:103824227-103824228
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	chr7:103814607..103816187-chr7:103821734..103824304,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10238218	0.80[ASN][1000 genomes]
rs10487190	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10487191	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11764162	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11767680	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11771050	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11771108	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11771398	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11773044	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11773664	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17324174	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17326187	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17327021	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17327119	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17377164	0.85[EUR][1000 genomes]
rs17377990	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2014811	0.91[CEU][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2299405	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2299406	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2299410	0.84[CEU][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2299412	0.80[ASN][1000 genomes]
rs2299413	0.80[ASN][1000 genomes]
rs2299414	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2299415	0.80[ASN][1000 genomes]
rs2385142	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3779515	0.86[CEU][hapmap];0.92[EUR][1000 genomes]
rs3779516	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs3779517	0.92[EUR][1000 genomes]
rs3808003	0.93[CEU][hapmap]
rs3808004	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3808017	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4141408	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56950973	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6950715	0.80[ASN][1000 genomes]
rs6961789	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6964461	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6977598	0.81[EUR][1000 genomes]
rs73189317	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73191412	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73191421	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7784705	0.80[ASN][1000 genomes]
rs7804341	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7807600	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7808273	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7811112	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9656091	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019640	chr7:103813522-103884705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv1026481	chr7:103813522-103890770	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	esv2762692	chr7:103813522-103890782	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	nsv526062	chr7:103817597-103891085	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	nsv608065	chr7:103817597-103990755	Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103764000-103829800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:103765600-103840200	Weak transcription	Small Intestine	intestine
3	chr7:103766200-103838400	Weak transcription	Spleen	Spleen
4	chr7:103767200-103829200	Weak transcription	Gastric	stomach
5	chr7:103767200-103843600	Weak transcription	Right Ventricle	heart
6	chr7:103775200-103829200	Weak transcription	Lung	lung
7	chr7:103796400-103843600	Weak transcription	Fetal Brain Male	brain
8	chr7:103797200-103847000	Weak transcription	Fetal Heart	heart
9	chr7:103798400-103829600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:103800800-103829600	Weak transcription	NHLF	lung
11	chr7:103802200-103838600	Weak transcription	Psoas Muscle	Psoas
12	chr7:103804200-103824800	Weak transcription	Pancreas	Pancrea
13	chr7:103809400-103838200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr7:103815400-103839200	Weak transcription	Colonic Mucosa	Colon
15	chr7:103815600-103829200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:103815600-103829200	Weak transcription	Aorta	Aorta
17	chr7:103815600-103838400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:103816000-103846200	Weak transcription	Stomach Mucosa	stomach
19	chr7:103816800-103836600	Weak transcription	Brain Substantia Nigra	brain
20	chr7:103817400-103827800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:103817800-103824800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:103817800-103825200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr7:103818000-103824400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
24	chr7:103818200-103829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:103818600-103832400	Strong transcription	Liver	Liver
26	chr7:103818600-103839600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:103818800-103832800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr7:103819000-103832400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:103819000-103838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr7:103819200-103830800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:103819400-103825400	Strong transcription	Hela-S3	cervix
32	chr7:103819600-103824400	Strong transcription	HSMM	muscle
33	chr7:103819600-103825600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:103819600-103830400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr7:103819800-103824400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr7:103820200-103825600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:103820400-103824800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:103820400-103832400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr7:103820600-103827600	Weak transcription	HMEC	breast
40	chr7:103820600-103829800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr7:103820800-103829200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:103820800-103829200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:103821000-103825400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:103821400-103825000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:103821400-103829200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:103821800-103825000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:103821800-103825400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr7:103821800-103825400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:103821800-103825600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:103821800-103826800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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