Variant report

Variant	rs56045386
Chromosome Location	chr2:98330698-98330699
allele	A/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:26)

rs_ID	r²[population]
rs10460480	1.00[AMR][1000 genomes]
rs17022096	1.00[AMR][1000 genomes]
rs17022495	1.00[AMR][1000 genomes]
rs17028435	1.00[AMR][1000 genomes]
rs17028568	1.00[AMR][1000 genomes]
rs17028640	1.00[AMR][1000 genomes]
rs17031009	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2167008	1.00[AMR][1000 genomes]
rs55637939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56381875	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56717024	1.00[AMR][1000 genomes]
rs56894046	1.00[AMR][1000 genomes]
rs57002448	1.00[AMR][1000 genomes]
rs57183691	1.00[AMR][1000 genomes]
rs57875000	1.00[AMR][1000 genomes]
rs58059561	1.00[AMR][1000 genomes]
rs58753916	1.00[AMR][1000 genomes]
rs59134572	1.00[AMR][1000 genomes]
rs59340312	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60599690	1.00[AMR][1000 genomes]
rs60713338	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61016336	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951140	1.00[AMR][1000 genomes]
rs73959761	1.00[AMR][1000 genomes]
rs73959772	1.00[AMR][1000 genomes]
rs9678135	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	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv33510	chr2:98317103-98341302	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98326200-98333000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:98327000-98330800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:98329000-98331000	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:98329000-98331600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:98329000-98331600	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:98329000-98331800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:98329000-98336000	Enhancers	Fetal Muscle Leg	muscle
8	chr2:98329200-98330800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:98329200-98330800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:98329400-98330800	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:98329400-98331400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:98329400-98332000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr2:98329600-98331800	Active TSS	Colonic Mucosa	Colon
14	chr2:98329800-98331400	Active TSS	Rectal Smooth Muscle	rectum
15	chr2:98329800-98332400	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr2:98330000-98330800	Active TSS	Primary T cells from cord blood	blood
17	chr2:98330000-98330800	Active TSS	Fetal Thymus	thymus
18	chr2:98330000-98331000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr2:98330000-98331000	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr2:98330000-98331000	Active TSS	Placenta	Placenta
21	chr2:98330000-98331200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:98330000-98331200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:98330000-98331400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:98330000-98331400	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr2:98330000-98331400	Active TSS	Duodenum Mucosa	Duodenum
26	chr2:98330000-98331400	Active TSS	Esophagus	oesophagus
27	chr2:98330000-98331600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:98330000-98332400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:98330000-98337200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:98330200-98330800	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr2:98330200-98331000	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr2:98330200-98331000	Active TSS	Small Intestine	intestine
33	chr2:98330200-98331000	Active TSS	Thymus	Thymus
34	chr2:98330200-98331200	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr2:98330200-98332000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:98330200-98332000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:98330200-98332200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
38	chr2:98330200-98334800	Weak transcription	GM12878-XiMat	blood
39	chr2:98330200-98335800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:98330400-98330800	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr2:98330400-98330800	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr2:98330400-98330800	Active TSS	Spleen	Spleen
43	chr2:98330400-98331200	Active TSS	Lung	lung
44	chr2:98330400-98333600	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr2:98330600-98330800	Active TSS	Primary T cells fromperipheralblood	blood
46	chr2:98330600-98331000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr2:98330600-98331200	Enhancers	Primary B cells from cord blood	blood
48	chr2:98330600-98331400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:98330600-98331800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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