Variant report

Variant	rs4141686
Chromosome Location	chr2:36712597-36712598
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	chr2:36712172..36714860-chr2:36716725..36718248,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10490671	0.89[CHB][hapmap]
rs2023408	0.89[CHB][hapmap]
rs2888369	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770827	0.84[CHB][hapmap]
rs3770834	0.84[CHB][hapmap]
rs3770841	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3770849	0.81[AMR][1000 genomes]
rs4670563	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848519	0.89[CHB][hapmap]
rs848529	0.94[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs848531	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs848532	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs848539	0.85[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs848543	0.89[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs918052	0.95[CEU][hapmap];0.95[CHB][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs955602	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv581468	chr2:36687111-36715689	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
2	chr2:36703200-36712600	Genic enhancers	Osteobl	bone
3	chr2:36703200-36717200	Weak transcription	Brain Substantia Nigra	brain
4	chr2:36703400-36712800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:36703800-36713400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:36704000-36712600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:36704400-36716200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:36704600-36713200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:36704800-36736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:36705000-36743200	Weak transcription	Brain Germinal Matrix	brain
11	chr2:36705200-36713800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:36706800-36712600	Weak transcription	Fetal Thymus	thymus
13	chr2:36707000-36740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:36707200-36713000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:36707400-36716400	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:36707600-36716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:36707600-36717000	Weak transcription	Brain Angular Gyrus	brain
18	chr2:36708000-36712800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:36708600-36713000	Genic enhancers	Placenta	Placenta
20	chr2:36708600-36739000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:36708800-36720800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:36708800-36726000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:36709000-36713000	Genic enhancers	HepG2	liver
24	chr2:36709000-36719600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:36709200-36726800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:36709200-36727200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
28	chr2:36709400-36726600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:36709400-36726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:36709400-36726800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr2:36709800-36712600	Genic enhancers	NH-A	brain
32	chr2:36709800-36712800	Genic enhancers	HSMM	muscle
33	chr2:36710000-36713000	Enhancers	Psoas Muscle	Psoas
34	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
35	chr2:36710200-36712800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:36710400-36726600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:36710600-36712800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:36710600-36713000	Enhancers	Right Atrium	heart
39	chr2:36710600-36713400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:36710800-36712600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr2:36710800-36714000	Genic enhancers	NHEK	skin
42	chr2:36711000-36712600	Enhancers	Right Ventricle	heart
43	chr2:36711000-36712800	Strong transcription	Fetal Brain Female	brain
44	chr2:36711000-36713400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:36711200-36712600	Genic enhancers	HMEC	breast
46	chr2:36711200-36713200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:36711200-36717400	Enhancers	Rectal Smooth Muscle	rectum
48	chr2:36711200-36726600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:36711400-36712600	Genic enhancers	Adipose Nuclei	Adipose
50	chr2:36711400-36713000	Enhancers	Pancreas	Pancrea

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