Variant report

Variant	rs13414223
Chromosome Location	chr2:183605077-183605078
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183598562..183601239-chr2:183604490..183606088,2	K562	blood:
2	chr2:183598869..183601540-chr2:183602374..183605129,3	MCF-7	breast:
3	chr2:183592791..183595028-chr2:183604249..183606530,2	K562	blood:
4	chr2:183603082..183605652-chr2:183608398..183611324,2	K562	blood:
5	chr2:183580659..183582822-chr2:183604202..183605907,2	K562	blood:
6	chr2:183600490..183602060-chr2:183603873..183605839,2	K562	blood:

Variant related genes	Relation type
ENSG00000077232	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10196982	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10211132	0.95[AFR][1000 genomes]
rs13386980	0.87[AFR][1000 genomes]
rs16823660	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881097	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1881098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs288266	1.00[JPT][hapmap]
rs288277	0.88[ASN][1000 genomes]
rs288279	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs288284	0.88[ASN][1000 genomes]
rs288286	0.88[ASN][1000 genomes]
rs288297	0.88[ASN][1000 genomes]
rs288298	0.88[ASN][1000 genomes]
rs288333	0.88[ASN][1000 genomes]
rs288345	0.88[ASN][1000 genomes]
rs288352	0.84[ASN][1000 genomes]
rs9288085	0.84[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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv875483	chr2:183537399-183657867	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183581600-183609600	Weak transcription	Spleen	Spleen
2	chr2:183581800-183606800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:183581800-183607000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:183581800-183614600	Weak transcription	Right Ventricle	heart
5	chr2:183581800-183622600	Weak transcription	Colonic Mucosa	Colon
6	chr2:183581800-183631000	Weak transcription	Esophagus	oesophagus
7	chr2:183581800-183647600	Weak transcription	Gastric	stomach
8	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
9	chr2:183582000-183605200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:183582400-183606800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:183582400-183608800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:183582400-183608800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:183582400-183610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:183582600-183606800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:183582600-183606800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:183582600-183608600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:183582600-183608800	Weak transcription	Fetal Heart	heart
18	chr2:183582600-183610600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:183582600-183624400	Weak transcription	Stomach Mucosa	stomach
20	chr2:183582800-183605200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr2:183582800-183610000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:183582800-183610000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:183582800-183614600	Weak transcription	Fetal Brain Male	brain
24	chr2:183583000-183605200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:183583000-183608400	Weak transcription	Hela-S3	cervix
26	chr2:183583200-183605400	Weak transcription	Brain Angular Gyrus	brain
27	chr2:183584200-183610400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:183584800-183610200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:183584800-183610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:183584800-183610400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:183588200-183606800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:183588200-183606800	Weak transcription	Fetal Stomach	stomach
33	chr2:183588600-183611200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:183588600-183624200	Weak transcription	Small Intestine	intestine
35	chr2:183588800-183606800	Weak transcription	Lung	lung
36	chr2:183590600-183605200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:183591400-183610400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr2:183591400-183622600	Weak transcription	Brain Germinal Matrix	brain
39	chr2:183591800-183607000	Weak transcription	Aorta	Aorta
40	chr2:183591800-183607000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:183592200-183608800	Weak transcription	Psoas Muscle	Psoas
42	chr2:183593800-183606800	Weak transcription	Fetal Intestine Small	intestine
43	chr2:183594200-183606800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:183595200-183605200	Weak transcription	GM12878-XiMat	blood
45	chr2:183596600-183608800	Weak transcription	NHEK	skin
46	chr2:183597000-183606600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:183597200-183607000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:183597200-183608200	Weak transcription	Fetal Lung	lung
49	chr2:183597400-183607000	Weak transcription	HSMMtube	muscle
50	chr2:183599200-183610400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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