Variant report

Variant	rs531748229
Chromosome Location	chr2:183610911-183610912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183580042..183581600-chr2:183608683..183611229,2	MCF-7	breast:
2	chr2:183598485..183600408-chr2:183608277..183611050,2	MCF-7	breast:
3	chr2:183603082..183605652-chr2:183608398..183611324,2	K562	blood:

Variant related genes	Relation type
ENSG00000077232	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv10204	chr2:183609768-183639750	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 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	chr2:183581800-183614600	Weak transcription	Right Ventricle	heart
2	chr2:183581800-183622600	Weak transcription	Colonic Mucosa	Colon
3	chr2:183581800-183631000	Weak transcription	Esophagus	oesophagus
4	chr2:183581800-183647600	Weak transcription	Gastric	stomach
5	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
6	chr2:183582600-183624400	Weak transcription	Stomach Mucosa	stomach
7	chr2:183582800-183614600	Weak transcription	Fetal Brain Male	brain
8	chr2:183588600-183611200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:183588600-183624200	Weak transcription	Small Intestine	intestine
10	chr2:183591400-183622600	Weak transcription	Brain Germinal Matrix	brain
11	chr2:183601600-183620000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:183602600-183622600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:183602600-183624200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr2:183603200-183622400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:183605600-183646000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:183605800-183611000	Strong transcription	Fetal Thymus	thymus
17	chr2:183605800-183614400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:183606000-183622800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:183606000-183624200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:183606800-183611000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:183607200-183622600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:183607200-183638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:183608000-183621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:183608000-183622800	Weak transcription	Thymus	Thymus
25	chr2:183608000-183624200	Weak transcription	Fetal Stomach	stomach
26	chr2:183608000-183628200	Weak transcription	Fetal Intestine Small	intestine
27	chr2:183609000-183615000	Weak transcription	NHDF-Ad	bronchial
28	chr2:183609000-183646600	Weak transcription	Hela-S3	cervix
29	chr2:183609600-183614600	Weak transcription	Ovary	ovary
30	chr2:183609600-183622800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:183610000-183614600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:183610000-183638800	Weak transcription	Lung	lung
33	chr2:183610200-183611000	Weak transcription	Primary T cells from cord blood	blood
34	chr2:183610200-183614400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:183610200-183614400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:183610200-183614400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:183610200-183614400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:183610200-183614400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:183610200-183614400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:183610200-183614400	Weak transcription	GM12878-XiMat	blood
41	chr2:183610200-183614600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:183610200-183614600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:183610200-183614600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:183610200-183614600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:183610200-183614600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:183610200-183614600	Weak transcription	Fetal Heart	heart
47	chr2:183610200-183614600	Weak transcription	Fetal Kidney	kidney
48	chr2:183610200-183614600	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:183610200-183614600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr2:183610200-183614600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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