Variant report

Variant	rs572957666
Chromosome Location	chr2:37192930-37192931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37191677..37193362-chr2:37233119..37235779,2	K562	blood:
2	chr2:37186145..37190956-chr2:37191183..37194668,5	K562	blood:
3	chr2:37114816..37116390-chr2:37191550..37193356,2	MCF-7	breast:
4	chr2:37183661..37187179-chr2:37192061..37194972,3	MCF-7	breast:
5	chr2:37192443..37195662-chr2:37309226..37313144,4	K562	blood:
6	chr2:37170595..37172882-chr2:37190992..37193264,2	K562	blood:

Variant related genes	Relation type
ENSG00000008869	Chromatin interaction
ENSG00000252518	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	chr2:37191600-37193200	Flanking Active TSS	Dnd41	blood
2	chr2:37191600-37194600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:37191600-37194600	Active TSS	NHLF	lung
4	chr2:37191800-37193000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr2:37191800-37193000	Active TSS	Right Atrium	heart
6	chr2:37191800-37193200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:37191800-37193200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:37191800-37193200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr2:37191800-37194000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:37191800-37194400	Active TSS	Esophagus	oesophagus
11	chr2:37191800-37194600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:37191800-37194600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:37191800-37194600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:37191800-37194600	Active TSS	Left Ventricle	heart
15	chr2:37191800-37195000	Active TSS	NHDF-Ad	bronchial
16	chr2:37192000-37193000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr2:37192000-37193000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr2:37192000-37193000	Flanking Active TSS	Fetal Lung	lung
19	chr2:37192000-37193200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr2:37192000-37193200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:37192000-37193200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr2:37192000-37194000	Active TSS	Colonic Mucosa	Colon
23	chr2:37192000-37194200	Active TSS	HSMM	muscle
24	chr2:37192000-37194400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr2:37192000-37194400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr2:37192000-37194400	Active TSS	NH-A	brain
27	chr2:37192000-37194800	Active TSS	Right Ventricle	heart
28	chr2:37192000-37195000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr2:37192000-37195000	Active TSS	Psoas Muscle	Psoas
30	chr2:37192200-37193000	Flanking Active TSS	Fetal Brain Female	brain
31	chr2:37192200-37193200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr2:37192200-37193200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:37192200-37193200	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr2:37192200-37194400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:37192200-37194400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:37192200-37194400	Active TSS	Fetal Brain Male	brain
37	chr2:37192200-37194600	Active TSS	Duodenum Mucosa	Duodenum
38	chr2:37192200-37194600	Active TSS	Ovary	ovary
39	chr2:37192200-37194600	Active TSS	GM12878-XiMat	blood
40	chr2:37192200-37194800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr2:37192200-37194800	Active TSS	H1 Cell Line	embryonic stem cell
42	chr2:37192200-37194800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:37192200-37194800	Active TSS	Rectal Smooth Muscle	rectum
44	chr2:37192200-37195000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:37192200-37195000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:37192400-37193000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr2:37192400-37193000	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr2:37192400-37194000	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr2:37192400-37194200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:37192400-37194200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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