Variant report

Variant	rs371959631
Chromosome Location	chr2:153484825-153484826
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153483467..153486291-chr2:153489927..153492505,2	K562	blood:
2	chr2:153046132..153047527-chr2:153483800..153484839,4	K562	blood:
3	chr2:153400047..153401814-chr2:153483304..153486097,2	MCF-7	breast:
4	chr2:153483467..153486050-chr2:153491005..153492625,2	K562	blood:
5	chr2:153477237..153479391-chr2:153483533..153486073,3	K562	blood:
6	chr2:153031670..153034258-chr2:153483006..153485613,2	MCF-7	breast:
7	chr2:153031626..153033929-chr2:153482275..153486045,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115145	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3693437	chr2:153484685-153505003	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153454800-153496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:153457200-153505000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:153463800-153502800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:153464000-153502800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:153467200-153504000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:153468600-153495800	Weak transcription	Esophagus	oesophagus
7	chr2:153468800-153492000	Weak transcription	Liver	Liver
8	chr2:153469000-153493800	Weak transcription	Spleen	Spleen
9	chr2:153469000-153496400	Weak transcription	Colonic Mucosa	Colon
10	chr2:153469000-153509800	Weak transcription	Small Intestine	intestine
11	chr2:153469200-153495200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:153469600-153487200	Weak transcription	Fetal Thymus	thymus
13	chr2:153469600-153496800	Weak transcription	HSMM	muscle
14	chr2:153471000-153507000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:153473000-153500600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:153473800-153496400	Weak transcription	Osteobl	bone
18	chr2:153474400-153486200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:153474400-153505000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:153475800-153493000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:153476600-153492800	Weak transcription	Gastric	stomach
22	chr2:153477600-153489800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:153477800-153486200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:153477800-153488000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:153477800-153488200	Weak transcription	Pancreas	Pancrea
26	chr2:153477800-153488400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:153477800-153488400	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:153477800-153493800	Weak transcription	HSMMtube	muscle
29	chr2:153477800-153496000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:153477800-153496600	Weak transcription	Aorta	Aorta
31	chr2:153478200-153487000	Weak transcription	Brain Germinal Matrix	brain
32	chr2:153478600-153488600	Weak transcription	Right Ventricle	heart
33	chr2:153478800-153486400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:153479400-153496200	Weak transcription	NH-A	brain
35	chr2:153479800-153488600	Weak transcription	Fetal Intestine Small	intestine
36	chr2:153481000-153488000	Strong transcription	HepG2	liver
37	chr2:153481000-153490200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:153481200-153491200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:153481200-153493400	Weak transcription	Fetal Brain Male	brain
40	chr2:153481200-153502200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:153481200-153502400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:153481400-153490400	Strong transcription	NHEK	skin
43	chr2:153481400-153502400	Strong transcription	Placenta	Placenta
44	chr2:153481400-153503000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:153481600-153489400	Strong transcription	HMEC	breast
46	chr2:153482000-153487000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:153482000-153490600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:153482000-153493600	Weak transcription	NHLF	lung
49	chr2:153482200-153486200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:153482200-153486600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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