Variant report

Variant	rs190312071
Chromosome Location	chr2:95963561-95963562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:95936537..95940362-chr2:95963521..95966858,4	MCF-7	breast:
2	chr2:95940517..95944027-chr2:95960761..95967163,11	MCF-7	breast:
3	chr2:95830665..95832278-chr2:95962096..95964714,2	MCF-7	breast:
4	chr2:95829346..95831231-chr2:95961091..95963572,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163067	Chromatin interaction
ENSG00000155066	Chromatin interaction
ENSG00000144026	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1007627	chr2:95878031-95973743	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv535822	chr2:95878031-95973743	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1003196	chr2:95935031-95988314	Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv482871	chr2:95936531-96036880	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv1010345	chr2:95939355-95988314	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv999838	chr2:95945923-96003473	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv3438568	chr2:95963275-95966073	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95956400-95965800	Weak transcription	Esophagus	oesophagus
2	chr2:95960000-95973000	Enhancers	Fetal Brain Male	brain
3	chr2:95961600-95965000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:95961800-95963600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:95962000-95963800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:95962200-95963800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:95962200-95963800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:95962200-95963800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:95962200-95964000	Enhancers	Fetal Lung	lung
10	chr2:95962400-95963800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:95962400-95964600	Flanking Active TSS	Dnd41	blood
12	chr2:95962600-95963600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:95962600-95963800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr2:95962600-95963800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr2:95962800-95963600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:95962800-95963600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:95962800-95963600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:95962800-95963600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:95962800-95963600	Flanking Active TSS	Fetal Muscle Trunk	muscle
20	chr2:95962800-95963600	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr2:95962800-95963800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:95962800-95963800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr2:95962800-95964000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:95963000-95963600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:95963000-95963600	Active TSS	Brain Anterior Caudate	brain
26	chr2:95963000-95963600	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr2:95963000-95963600	Active TSS	Pancreas	Pancrea
28	chr2:95963000-95963800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr2:95963200-95963600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:95963200-95963600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:95963200-95963600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:95963200-95963600	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr2:95963200-95963800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:95963200-95963800	Enhancers	Colonic Mucosa	Colon
35	chr2:95963200-95963800	Flanking Active TSS	Fetal Brain Female	brain
36	chr2:95963200-95963800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr2:95963200-95964000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:95963200-95964000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr2:95963200-95964000	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr2:95963200-95964000	Enhancers	Fetal Kidney	kidney
41	chr2:95963200-95964800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:95963400-95963600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:95963400-95963600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:95963400-95963600	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr2:95963400-95963600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr2:95963400-95963600	Flanking Active TSS	Fetal Thymus	thymus
47	chr2:95963400-95963600	Enhancers	Gastric	stomach
48	chr2:95963400-95963800	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr2:95963400-95963800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr2:95963400-95964200	Flanking Active TSS	Brain Hippocampus Middle	brain

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