Variant report

Variant	rs10248631
Chromosome Location	chr7:50349542-50349543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10081365	1.00[AMR][1000 genomes]
rs10237442	1.00[AFR][1000 genomes]
rs12112419	1.00[AMR][1000 genomes]
rs73698006	1.00[AMR][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	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50345400-50351000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:50346000-50350400	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr7:50346000-50353000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:50346200-50350800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:50346400-50350600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:50346600-50349600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr7:50347200-50353600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr7:50347200-50353800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:50347400-50353800	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr7:50347600-50353600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr7:50347800-50350600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:50348000-50349600	Active TSS	Colonic Mucosa	Colon
13	chr7:50348200-50350200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:50348200-50350400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:50348400-50349600	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr7:50348400-50349800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:50348400-50350400	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr7:50348400-50351000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:50348400-50353000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:50348600-50349800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:50348600-50350600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr7:50348600-50354400	Weak transcription	Spleen	Spleen
23	chr7:50348800-50349600	Flanking Active TSS	Dnd41	blood
24	chr7:50348800-50350000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:50348800-50350000	Active TSS	GM12878-XiMat	blood
26	chr7:50348800-50350600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:50348800-50351000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:50348800-50351600	Active TSS	Fetal Thymus	thymus
29	chr7:50348800-50353000	Active TSS	Thymus	Thymus
30	chr7:50349000-50350000	Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:50349000-50350000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr7:50349000-50350000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:50349000-50350200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:50349200-50349800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:50349200-50350000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:50349200-50350600	Active TSS	Duodenum Mucosa	Duodenum
37	chr7:50349200-50353600	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr7:50349200-50354200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr7:50349400-50349600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr7:50349400-50349600	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr7:50349400-50349600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:50349400-50349600	Active TSS	Small Intestine	intestine
43	chr7:50349400-50349800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:50349400-50349800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr7:50349400-50350000	Flanking Active TSS	K562	blood
46	chr7:50349400-50350200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr7:50349400-50350400	Active TSS	Primary T killer memory cells from peripheral blood	blood

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