Variant report

Variant	rs371321067
Chromosome Location	chr2:37193424-37193425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37186145..37190956-chr2:37191183..37194668,5	K562	blood:
2	chr11:67141563..67142093-chr2:37193174..37193824,2	Hela-S3	cervix:
3	chr2:37183661..37187179-chr2:37192061..37194972,3	MCF-7	breast:
4	chr2:37192443..37195662-chr2:37309226..37313144,4	K562	blood:
5	chr16:20752849..20753363-chr2:37192986..37193858,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000175505	Chromatin interaction
ENSG00000252518	Chromatin interaction
ENSG00000008869	Chromatin interaction
ENSG00000066654	Chromatin interaction
ENSG00000152133	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	esv3440334	chr2:37192273-37194821	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	esv3344704	chr2:37192448-37195146	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 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	chr2:37191600-37194600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:37191600-37194600	Active TSS	NHLF	lung
3	chr2:37191800-37194000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:37191800-37194400	Active TSS	Esophagus	oesophagus
5	chr2:37191800-37194600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr2:37191800-37194600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:37191800-37194600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:37191800-37194600	Active TSS	Left Ventricle	heart
9	chr2:37191800-37195000	Active TSS	NHDF-Ad	bronchial
10	chr2:37192000-37194000	Active TSS	Colonic Mucosa	Colon
11	chr2:37192000-37194200	Active TSS	HSMM	muscle
12	chr2:37192000-37194400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:37192000-37194400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr2:37192000-37194400	Active TSS	NH-A	brain
15	chr2:37192000-37194800	Active TSS	Right Ventricle	heart
16	chr2:37192000-37195000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr2:37192000-37195000	Active TSS	Psoas Muscle	Psoas
18	chr2:37192200-37194400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:37192200-37194400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:37192200-37194400	Active TSS	Fetal Brain Male	brain
21	chr2:37192200-37194600	Active TSS	Duodenum Mucosa	Duodenum
22	chr2:37192200-37194600	Active TSS	Ovary	ovary
23	chr2:37192200-37194600	Active TSS	GM12878-XiMat	blood
24	chr2:37192200-37194800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:37192200-37194800	Active TSS	H1 Cell Line	embryonic stem cell
26	chr2:37192200-37194800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:37192200-37194800	Active TSS	Rectal Smooth Muscle	rectum
28	chr2:37192200-37195000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:37192200-37195000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:37192400-37194000	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:37192400-37194200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr2:37192400-37194200	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr2:37192400-37194200	Active TSS	Fetal Thymus	thymus
34	chr2:37192400-37194400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:37192400-37194600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:37192400-37194600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:37192400-37194600	Active TSS	Placenta	Placenta
38	chr2:37192400-37194600	Active TSS	Fetal Stomach	stomach
39	chr2:37192400-37194600	Active TSS	HMEC	breast
40	chr2:37192400-37194800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:37192400-37194800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:37192400-37194800	Active TSS	Aorta	Aorta
43	chr2:37192400-37194800	Active TSS	Fetal Intestine Small	intestine
44	chr2:37192400-37194800	Active TSS	Fetal Kidney	kidney
45	chr2:37192600-37194200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr2:37192600-37194200	Active TSS	Osteobl	bone
47	chr2:37192600-37194400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:37192600-37194400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:37192600-37194400	Active TSS	Brain Hippocampus Middle	brain
50	chr2:37192600-37194400	Active TSS	Placenta Amnion	Placenta Amnion

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