Variant report

Variant	rs2022210
Chromosome Location	chr2:36717505-36717506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36712172..36714860-chr2:36716725..36718248,2	K562	blood:
2	chr2:36704675..36707940-chr2:36716381..36719591,3	MCF-7	breast:
3	chr2:36716629..36720213-chr2:36727612..36730787,3	MCF-7	breast:
4	chr2:36717130..36719655-chr2:36721302..36723135,2	K562	blood:
5	chr2:36715749..36718630-chr2:36721034..36723135,2	K562	blood:

Variant related genes	Relation type
ENSG00000150938	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1179500	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs11886869	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888819	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890094	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893748	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403857	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403858	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403859	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018901	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2021870	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770839	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770844	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770845	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3899034	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670562	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60970158	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61077474	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs711249	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs7571231	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7571475	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598753	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs848530	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs848533	0.87[CEU][hapmap]
rs848537	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs848538	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs950420	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955601	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
2	chr2:36704800-36736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:36705000-36743200	Weak transcription	Brain Germinal Matrix	brain
4	chr2:36707000-36740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:36708600-36739000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:36708800-36720800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr2:36708800-36726000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:36709000-36719600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:36709200-36726800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:36709200-36727200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
12	chr2:36709400-36726600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:36709400-36726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:36709400-36726800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
16	chr2:36710400-36726600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr2:36711200-36726600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:36711400-36726400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:36711400-36726400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:36711400-36726600	Weak transcription	Esophagus	oesophagus
21	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
22	chr2:36711600-36726800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:36711800-36717600	Weak transcription	Lung	lung
24	chr2:36711800-36726400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:36712000-36720000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:36712000-36726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:36712000-36726400	Weak transcription	Spleen	Spleen
28	chr2:36712000-36726600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:36712000-36726600	Weak transcription	Gastric	stomach
30	chr2:36712400-36718400	Enhancers	HSMMtube	muscle
31	chr2:36712600-36726400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:36712600-36727000	Weak transcription	Right Ventricle	heart
33	chr2:36712800-36719600	Weak transcription	Brain Anterior Caudate	brain
34	chr2:36712800-36726400	Weak transcription	Fetal Brain Female	brain
35	chr2:36712800-36726800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:36713000-36717600	Weak transcription	Psoas Muscle	Psoas
37	chr2:36713000-36721800	Weak transcription	Fetal Intestine Large	intestine
38	chr2:36713000-36726400	Weak transcription	Left Ventricle	heart
39	chr2:36713000-36733200	Weak transcription	Pancreas	Pancrea
40	chr2:36713600-36726600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:36713600-36739200	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:36713800-36726600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:36713800-36726600	Weak transcription	Ovary	ovary
44	chr2:36713800-36733200	Weak transcription	Stomach Mucosa	stomach
45	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr2:36714000-36720200	Genic enhancers	HSMM	muscle
47	chr2:36714000-36720400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:36714000-36720600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:36714000-36720800	Genic enhancers	Osteobl	bone
50	chr2:36714000-36722200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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