Variant report

Variant	rs2276644
Chromosome Location	chr2:98330218-98330219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1042705	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11123849	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11893601	1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11894651	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12991969	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13001139	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13009163	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1375436	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1470625	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1550995	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1823324	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs2053824	1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2167007	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2290124	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3474	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6542980	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs873886	0.85[AMR][1000 genomes];0.82[EUR][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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2276644	ANKRD36B	cis	Artery Tibial	GTEx
rs2276644	TMEM131	Cis_1M	lymphoblastoid	RTeQTL
rs2276644	ZAP70	cis	Nerve Tibial	GTEx

Chromatin state (count:47 , 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	chr2:98328800-98330400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:98329000-98330600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr2:98329000-98331000	Enhancers	Primary hematopoietic stem cells	blood
6	chr2:98329000-98331600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:98329000-98331600	Enhancers	Fetal Muscle Trunk	muscle
8	chr2:98329000-98331800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:98329000-98336000	Enhancers	Fetal Muscle Leg	muscle
10	chr2:98329200-98330800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:98329200-98330800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:98329400-98330400	Enhancers	Primary B cells from cord blood	blood
13	chr2:98329400-98330800	Enhancers	Primary B cells from peripheral blood	blood
14	chr2:98329400-98331400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:98329400-98332000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr2:98329600-98331800	Active TSS	Colonic Mucosa	Colon
17	chr2:98329800-98330400	Active TSS	Gastric	stomach
18	chr2:98329800-98331400	Active TSS	Rectal Smooth Muscle	rectum
19	chr2:98329800-98332400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr2:98330000-98330400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr2:98330000-98330400	Active TSS	Dnd41	blood
22	chr2:98330000-98330800	Active TSS	Primary T cells from cord blood	blood
23	chr2:98330000-98330800	Active TSS	Fetal Thymus	thymus
24	chr2:98330000-98331000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr2:98330000-98331000	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr2:98330000-98331000	Active TSS	Placenta	Placenta
27	chr2:98330000-98331200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:98330000-98331200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:98330000-98331400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:98330000-98331400	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr2:98330000-98331400	Active TSS	Duodenum Mucosa	Duodenum
32	chr2:98330000-98331400	Active TSS	Esophagus	oesophagus
33	chr2:98330000-98331600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:98330000-98332400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:98330000-98337200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:98330200-98330400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:98330200-98330600	Active TSS	Liver	Liver
38	chr2:98330200-98330800	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr2:98330200-98331000	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr2:98330200-98331000	Active TSS	Small Intestine	intestine
41	chr2:98330200-98331000	Active TSS	Thymus	Thymus
42	chr2:98330200-98331200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr2:98330200-98332000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:98330200-98332000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:98330200-98332200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
46	chr2:98330200-98334800	Weak transcription	GM12878-XiMat	blood
47	chr2:98330200-98335800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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