Variant report

Variant	rs11689661
Chromosome Location	chr2:233684833-233684834
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	chr2:233683047..233685214-chr2:233687358..233690299,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10176930	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10190211	0.84[ASN][1000 genomes]
rs10207739	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933407	0.84[ASN][1000 genomes]
rs10933408	0.84[ASN][1000 genomes]
rs11679581	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11684636	0.89[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685169	0.84[ASN][1000 genomes]
rs11694434	0.88[ASN][1000 genomes]
rs11695762	0.92[ASN][1000 genomes]
rs11904619	1.00[JPT][hapmap]
rs12052869	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12328140	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs12694915	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12694916	0.84[ASN][1000 genomes]
rs12988087	0.96[ASN][1000 genomes]
rs13035517	0.81[CEU][hapmap];0.88[CHB][hapmap]
rs13383733	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs13386650	0.80[ASN][1000 genomes]
rs13387762	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs13401578	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13408229	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412034	0.80[ASN][1000 genomes]
rs13412513	0.84[ASN][1000 genomes]
rs13425525	0.92[ASN][1000 genomes]
rs13425918	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs13429857	0.80[ASN][1000 genomes]
rs1446307	0.84[CEU][hapmap];0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs2289914	0.85[CEU][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2289915	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2292724	0.84[CHB][hapmap]
rs2292725	0.84[CHB][hapmap]
rs2293782	0.83[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2305139	0.88[ASN][1000 genomes]
rs28491817	0.88[ASN][1000 genomes]
rs34063802	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34832091	0.84[ASN][1000 genomes]
rs35778045	0.88[ASN][1000 genomes]
rs35785837	0.84[ASN][1000 genomes]
rs35928329	0.84[ASN][1000 genomes]
rs41266951	0.88[ASN][1000 genomes]
rs56054779	0.88[ASN][1000 genomes]
rs62193305	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73005582	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7557131	0.80[ASN][1000 genomes]
rs9288675	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9288676	0.86[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9808146	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9973586	0.88[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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
3	chr2:233665000-233692600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:233665400-233685800	Strong transcription	Fetal Lung	lung
5	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:233667600-233726400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:233667800-233693400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:233669000-233701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:233669200-233690400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:233669400-233690400	Strong transcription	Dnd41	blood
11	chr2:233669400-233703600	Strong transcription	Liver	Liver
12	chr2:233669600-233686200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:233669600-233690400	Strong transcription	Placenta	Placenta
14	chr2:233669600-233690800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:233669800-233686200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:233669800-233686400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr2:233669800-233692000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:233670000-233686200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:233670000-233690800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:233670000-233701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:233670200-233688800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:233670200-233692200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:233670200-233699600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr2:233670200-233702600	Strong transcription	HepG2	liver
25	chr2:233670600-233692600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:233670800-233686000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:233670800-233690400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:233670800-233700200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr2:233671000-233686600	Strong transcription	Fetal Muscle Trunk	muscle
30	chr2:233671000-233687000	Strong transcription	Fetal Thymus	thymus
31	chr2:233671000-233692000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:233671000-233700400	Strong transcription	Fetal Intestine Large	intestine
33	chr2:233671200-233686400	Strong transcription	Adipose Nuclei	Adipose
34	chr2:233671200-233690800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:233671400-233685600	Strong transcription	A549	lung
36	chr2:233674200-233686200	Strong transcription	Left Ventricle	heart
37	chr2:233675200-233685000	Strong transcription	Primary B cells from cord blood	blood
38	chr2:233677800-233686000	Strong transcription	HUVEC	blood vessel
39	chr2:233677800-233686200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:233678200-233686800	Strong transcription	NHDF-Ad	bronchial
41	chr2:233678200-233698200	Weak transcription	Stomach Mucosa	stomach
42	chr2:233679200-233686600	Strong transcription	Osteobl	bone
43	chr2:233679400-233685600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:233679400-233685800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:233679400-233686000	Strong transcription	Primary T cells from cord blood	blood
46	chr2:233679400-233693400	Strong transcription	HSMM	muscle
47	chr2:233679600-233692200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:233679800-233685800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:233679800-233686000	Strong transcription	NH-A	brain
50	chr2:233679800-233686200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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