Variant report

Variant	rs375493196
Chromosome Location	chr2:39347462-39347463
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39346582..39349686-chr2:39454756..39458494,4	MCF-7	breast:
2	chr2:39319265..39325749-chr2:39345590..39349573,11	MCF-7	breast:
3	chr2:39346435..39348442-chr2:39355964..39358856,3	MCF-7	breast:
4	chr2:38975187..38978600-chr2:39347007..39351369,4	K562	blood:
5	chr2:39346444..39348213-chr2:39455953..39458743,3	MCF-7	breast:
6	chr2:38976457..38978515-chr2:39347011..39349138,2	K562	blood:

Variant related genes	Relation type
ENSG00000115875	Chromatin interaction
ENSG00000202309	Chromatin interaction
ENSG00000205111	Chromatin interaction
ENSG00000225900	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
2	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1008198	chr2:39271472-39364035	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv581495	chr2:39282079-39475205	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	esv3495561	chr2:39346298-39349296	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
16	esv3495562	chr2:39346298-39349296	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	esv3326921	chr2:39346473-39349321	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39344400-39348600	Active TSS	GM12878-XiMat	blood
2	chr2:39345200-39348800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:39345400-39348800	Active TSS	Ovary	ovary
4	chr2:39345400-39349200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr2:39345600-39347600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr2:39345600-39347600	Active TSS	Right Atrium	heart
7	chr2:39345600-39348400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:39345600-39348600	Active TSS	Aorta	Aorta
9	chr2:39345800-39348600	Active TSS	Left Ventricle	heart
10	chr2:39345800-39348600	Active TSS	K562	blood
11	chr2:39345800-39348800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:39345800-39348800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:39345800-39348800	Active TSS	Colonic Mucosa	Colon
14	chr2:39346000-39348200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:39346000-39348400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:39346000-39348400	Active TSS	Stomach Smooth Muscle	stomach
17	chr2:39346000-39348400	Active TSS	NHDF-Ad	bronchial
18	chr2:39346000-39348600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:39346000-39348600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:39346000-39348600	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr2:39346000-39348600	Active TSS	Small Intestine	intestine
22	chr2:39346000-39348600	Bivalent/Poised TSS	HepG2	liver
23	chr2:39346000-39348600	Active TSS	HMEC	breast
24	chr2:39346000-39348800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:39346000-39348800	Active TSS	HSMMtube	muscle
26	chr2:39346000-39349000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:39346000-39349000	Active TSS	Fetal Muscle Trunk	muscle
28	chr2:39346200-39347600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr2:39346200-39348200	Active TSS	Primary T cells fromperipheralblood	blood
30	chr2:39346200-39348200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:39346200-39348400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:39346200-39348400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:39346200-39348400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:39346200-39348400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:39346200-39348400	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr2:39346200-39348400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:39346200-39348400	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr2:39346200-39348400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr2:39346200-39348400	Active TSS	Fetal Lung	lung
40	chr2:39346200-39348400	Active TSS	Placenta	Placenta
41	chr2:39346200-39348400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr2:39346200-39348400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr2:39346200-39348400	Active TSS	Thymus	Thymus
44	chr2:39346200-39348400	Active TSS	NHEK	skin
45	chr2:39346200-39348400	Active TSS	NHLF	lung
46	chr2:39346200-39348600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:39346200-39348600	Active TSS	Brain Cingulate Gyrus	brain
48	chr2:39346200-39348600	Active TSS	Duodenum Mucosa	Duodenum
49	chr2:39346200-39348600	Active TSS	Fetal Intestine Small	intestine
50	chr2:39346200-39348600	Active TSS	Pancreatic Islets	Pancreatic Islet

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