Variant report

Variant	rs587646037
Chromosome Location	chr1:120324801-120324802
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:120324664..120326745-chr1:120374346..120376019,2	MCF-7	breast:
2	chr1:120324655..120326913-chr1:120332769..120335271,3	MCF-7	breast:
3	chr1:120254317..120256154-chr1:120322283..120325214,2	MCF-7	breast:
4	chr1:120324473..120326821-chr1:120335135..120337895,2	K562	blood:
5	chr1:120279084..120281873-chr1:120323241..120326193,2	MCF-7	breast:
6	chr1:120276233..120278841-chr1:120322677..120325255,2	K562	blood:
7	chr1:120229792..120231465-chr1:120324714..120327706,2	MCF-7	breast:
8	chr1:120276233..120279143-chr1:120323755..120325548,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000092621	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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120311800-120325400	Weak transcription	Lung	lung
2	chr1:120316800-120326000	Weak transcription	Esophagus	oesophagus
3	chr1:120317000-120325400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:120318400-120325200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:120318400-120328000	Weak transcription	Gastric	stomach
6	chr1:120321600-120330800	Enhancers	Placenta	Placenta
7	chr1:120322800-120325200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:120322800-120325600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:120322800-120326400	Weak transcription	Colonic Mucosa	Colon
10	chr1:120323000-120325000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:120323000-120325200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:120323000-120325600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:120323000-120326600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:120323200-120325600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:120323400-120325200	Weak transcription	NHEK	skin
16	chr1:120323400-120325400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:120323400-120325600	Weak transcription	Ovary	ovary
18	chr1:120323400-120325600	Weak transcription	Hela-S3	cervix
19	chr1:120323400-120325800	Weak transcription	Adipose Nuclei	Adipose
20	chr1:120323400-120326000	Weak transcription	Pancreas	Pancrea
21	chr1:120323400-120326400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:120323400-120326800	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:120323600-120325400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:120323600-120329400	Enhancers	Liver	Liver
25	chr1:120323800-120325000	Weak transcription	Fetal Lung	lung
26	chr1:120323800-120325200	Weak transcription	Fetal Kidney	kidney
27	chr1:120323800-120332600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:120324400-120325400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:120324600-120325000	Weak transcription	Stomach Mucosa	stomach
30	chr1:120324600-120328800	Enhancers	HepG2	liver
31	chr1:120324800-120325000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:120324800-120325400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:120324800-120326000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:120324800-120328800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:120324800-120329000	Enhancers	Fetal Stomach	stomach
36	chr1:120324800-120330600	Enhancers	Fetal Muscle Leg	muscle
37	chr1:120324800-120330800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:120324800-120331000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr1:120324800-120335000	Enhancers	Fetal Intestine Large	intestine
40	chr1:120324800-120335000	Enhancers	Fetal Intestine Small	intestine

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