Variant report

Variant	rs2348894
Chromosome Location	chr7:8177931-8177932
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10156066	1.00[ASN][1000 genomes]
rs10156131	1.00[ASN][1000 genomes]
rs10249650	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252384	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255341	1.00[ASN][1000 genomes]
rs10271887	1.00[ASN][1000 genomes]
rs10952090	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763052	0.81[AMR][1000 genomes]
rs11767851	1.00[ASN][1000 genomes]
rs16872666	1.00[ASN][1000 genomes]
rs2110332	1.00[ASN][1000 genomes]
rs2110333	1.00[ASN][1000 genomes]
rs2192344	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2192345	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725072	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6463770	1.00[ASN][1000 genomes]
rs6943357	1.00[ASN][1000 genomes]
rs6948664	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6957995	1.00[ASN][1000 genomes]
rs6958145	1.00[ASN][1000 genomes]
rs6969882	1.00[ASN][1000 genomes]
rs887849	1.00[ASN][1000 genomes]
rs887850	1.00[ASN][1000 genomes]
rs958794	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1020686	chr7:8095118-8311985	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv538723	chr7:8095118-8311985	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv949024	chr7:8176301-8522495	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1031226	chr7:8176311-8569811	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv538724	chr7:8176311-8569811	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv887492	chr7:8177689-8513927	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8150600-8200000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:8152600-8183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:8155800-8185600	Weak transcription	Fetal Heart	heart
4	chr7:8159200-8186600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:8162400-8192800	Weak transcription	Colonic Mucosa	Colon
6	chr7:8166000-8179600	Weak transcription	Right Ventricle	heart
7	chr7:8166000-8179800	Weak transcription	Gastric	stomach
8	chr7:8166000-8180200	Weak transcription	Fetal Intestine Large	intestine
9	chr7:8166000-8180200	Weak transcription	Spleen	Spleen
10	chr7:8166000-8186600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:8167800-8179800	Weak transcription	Lung	lung
12	chr7:8167800-8192200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:8168000-8183200	Weak transcription	Left Ventricle	heart
14	chr7:8168400-8179800	Weak transcription	Pancreas	Pancrea
15	chr7:8168400-8180000	Weak transcription	Fetal Stomach	stomach
16	chr7:8168800-8179800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr7:8169200-8186600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:8170000-8192000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:8170200-8179800	Weak transcription	Fetal Intestine Small	intestine
20	chr7:8172000-8180000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:8172400-8187400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:8172400-8215800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr7:8172800-8179800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr7:8172800-8180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:8173000-8188400	Weak transcription	Primary B cells from cord blood	blood
26	chr7:8174000-8182800	Weak transcription	Adipose Nuclei	Adipose
27	chr7:8174000-8184600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:8174800-8183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:8175200-8180600	Weak transcription	Fetal Thymus	thymus
30	chr7:8175200-8182600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:8175400-8178600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:8175400-8180000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr7:8175600-8183000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:8175800-8180400	Weak transcription	Primary T cells from cord blood	blood
35	chr7:8176000-8179800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr7:8176200-8178600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:8176200-8180400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:8176200-8180800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:8176200-8197000	Weak transcription	Stomach Mucosa	stomach
40	chr7:8176400-8200600	Weak transcription	K562	blood
41	chr7:8176800-8178000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:8176800-8183400	Weak transcription	Fetal Brain Male	brain
43	chr7:8177000-8178600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr7:8177400-8179000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr7:8177400-8183600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:8177800-8178600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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