Variant report

Variant	rs531760920
Chromosome Location	chr1:159896696-159896697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:159891193-159896946	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr1:159891006-159897146	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:159867714..159872753-chr1:159888238..159897653,26	MCF-7	breast:
2	chr1:159893029..159897081-chr1:159913897..159916842,4	K562	blood:
3	chr1:159895030..159897330-chr1:160336317..160337995,2	K562	blood:
4	chr1:159895581..159897596-chr1:159914205..159917814,3	K562	blood:
5	chr1:159892760..159896965-chr1:159922291..159925141,4	K562	blood:
6	chr1:159749654..159753650-chr1:159893129..159897064,5	K562	blood:
7	chr1:159895690..159897538-chr1:159952889..159955183,2	MCF-7	breast:
8	chr1:159849524..159855838-chr1:159893211..159898295,8	MCF-7	breast:

No data

Variant related genes	Relation type
TAGLN2	TF binding region
ENSG00000171786	Chromatin interaction
ENSG00000158716	Chromatin interaction
ENSG00000213085	Chromatin interaction
ENSG00000085552	Chromatin interaction
ENSG00000162723	Chromatin interaction
ENSG00000266458	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv872489	chr1:159844819-159940000	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv464150	chr1:159860917-159908393	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv548052	chr1:159860917-159908393	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv548053	chr1:159885500-159908393	Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
6	nsv524006	chr1:159886422-159923111	Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv516637	chr1:159889686-159908393	Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	62 gene(s)	inside rSNPs	diseases
8	nsv548054	chr1:159895979-159907441	Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159895600-159898200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:159895800-159896800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:159895800-159898800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:159895800-159899000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:159895800-159899200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:159895800-159906600	Weak transcription	Small Intestine	intestine
7	chr1:159896000-159896800	Enhancers	K562	blood
8	chr1:159896000-159897000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:159896000-159897000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:159896000-159897000	Weak transcription	Brain Germinal Matrix	brain
11	chr1:159896000-159897000	Weak transcription	Ovary	ovary
12	chr1:159896000-159897200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:159896000-159897200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:159896000-159897200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:159896000-159897200	Enhancers	Spleen	Spleen
16	chr1:159896000-159897200	Weak transcription	GM12878-XiMat	blood
17	chr1:159896000-159897400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:159896000-159897400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:159896000-159897600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:159896000-159898800	Enhancers	Pancreas	Pancrea
21	chr1:159896000-159899000	Weak transcription	Esophagus	oesophagus
22	chr1:159896000-159899200	Weak transcription	Gastric	stomach
23	chr1:159896000-159906000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:159896200-159896800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:159896200-159897000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:159896200-159897000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:159896200-159897000	Weak transcription	Fetal Brain Female	brain
28	chr1:159896200-159897000	Weak transcription	Fetal Stomach	stomach
29	chr1:159896200-159897000	Weak transcription	Left Ventricle	heart
30	chr1:159896200-159897200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:159896200-159897600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:159896200-159897600	Weak transcription	NHDF-Ad	bronchial
33	chr1:159896200-159898800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:159896200-159898800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:159896200-159899600	Weak transcription	Colonic Mucosa	Colon
36	chr1:159896200-159906000	Genic enhancers	Fetal Intestine Small	intestine
37	chr1:159896400-159897200	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr1:159896400-159897400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:159896400-159897400	Weak transcription	Liver	Liver
40	chr1:159896400-159897400	Weak transcription	Fetal Muscle Leg	muscle
41	chr1:159896400-159897600	Weak transcription	Placenta	Placenta
42	chr1:159896400-159897600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:159896400-159897600	Strong transcription	NHEK	skin
44	chr1:159896400-159897800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:159896400-159899000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:159896400-159901000	Weak transcription	Fetal Thymus	thymus
47	chr1:159896400-159902200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:159896400-159906000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr1:159896400-159906000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:159896400-159906600	Weak transcription	Right Atrium	heart

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