Variant report

Variant	rs568162862
Chromosome Location	chr2:190347606-190347607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:190347309..190351333-chr2:190419513..190421740,3	MCF-7	breast:
2	chr2:190343819..190345333-chr2:190346157..190348591,2	K562	blood:
3	chr2:190343744..190345333-chr2:190346489..190348591,2	K562	blood:
4	chr2:190304945..190307026-chr2:190347089..190349073,2	MCF-7	breast:
5	chr2:190344868..190348072-chr2:190351001..190352963,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233996	Chromatin interaction
ENSG00000115368	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription 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	19 gene(s)	inside rSNPs	diseases
4	esv3458867	chr2:190346710-190347646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3458868	chr2:190346710-190347646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190315400-190347800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:190335000-190348600	Weak transcription	Pancreas	Pancrea
3	chr2:190335000-190348600	Weak transcription	Right Ventricle	heart
4	chr2:190335000-190348800	Weak transcription	Gastric	stomach
5	chr2:190335000-190351800	Weak transcription	Psoas Muscle	Psoas
6	chr2:190335000-190366200	Weak transcription	Ovary	ovary
7	chr2:190335800-190352600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:190336600-190349600	Weak transcription	HSMMtube	muscle
9	chr2:190338400-190348600	Weak transcription	Fetal Intestine Small	intestine
10	chr2:190338600-190348600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:190338600-190349600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:190339400-190349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:190339600-190348200	Weak transcription	Lung	lung
14	chr2:190339600-190348400	Weak transcription	Spleen	Spleen
15	chr2:190339600-190349800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:190339600-190350000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:190339600-190352600	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:190340600-190348800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:190340800-190352400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:190341200-190348600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:190341200-190348600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:190341400-190348600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:190341600-190348600	Weak transcription	Fetal Intestine Large	intestine
24	chr2:190341600-190348600	Weak transcription	Left Ventricle	heart
25	chr2:190341600-190350800	Weak transcription	Liver	Liver
26	chr2:190341800-190351000	Weak transcription	HMEC	breast
27	chr2:190341800-190351200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:190342400-190357000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:190342600-190349000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:190342800-190350000	Weak transcription	HSMM	muscle
31	chr2:190343000-190348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:190343000-190348600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:190346200-190349600	Enhancers	Placenta	Placenta
34	chr2:190347600-190348000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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