Variant report

Variant	rs571817171
Chromosome Location	chr1:159896350-159896351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:159892253-159896642	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:159892652-159896579	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:159891193-159896946	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:159891006-159897146	IMR90	lung:	n/a	n/a
5	GTF2F1	chr1:159894130-159896453	Hela-S3	cervix:	n/a	n/a
6	ATF1	chr1:159896344-159896659	K562	blood:	n/a	n/a
7	POLR2A	chr1:159894986-159896370	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr1:159887143-159896607	A549	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:159867714..159872753-chr1:159888238..159897653,26	MCF-7	breast:
2	chr1:159893111..159896488-chr1:159998687..160003248,7	K562	blood:
3	chr1:159847755..159854345-chr1:159891168..159896645,10	K562	blood:
4	chr1:159893029..159897081-chr1:159913897..159916842,4	K562	blood:
5	chr1:159895030..159897330-chr1:160336317..160337995,2	K562	blood:
6	chr1:159895581..159897596-chr1:159914205..159917814,3	K562	blood:
7	chr1:159893567..159896564-chr1:160230805..160232399,2	K562	blood:
8	chr1:159892760..159896965-chr1:159922291..159925141,4	K562	blood:
9	chr1:159749654..159753650-chr1:159893129..159897064,5	K562	blood:
10	chr1:159895690..159897538-chr1:159952889..159955183,2	MCF-7	breast:
11	chr1:159849524..159855838-chr1:159893211..159898295,8	MCF-7	breast:

No data

Variant related genes	Relation type
TAGLN2	TF binding region
ENSG00000158716	Chromatin interaction
ENSG00000085552	Chromatin interaction
ENSG00000162723	Chromatin interaction
ENSG00000228606	Chromatin interaction
ENSG00000143315	Chromatin interaction
ENSG00000171786	Chromatin interaction
ENSG00000213085	Chromatin interaction
ENSG00000266458	Chromatin interaction
ENSG00000132716	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159895400-159896400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr1:159895400-159896400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr1:159895600-159896400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr1:159895600-159896400	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr1:159895600-159896400	Flanking Active TSS	A549	lung
6	chr1:159895600-159896600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:159895600-159896600	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr1:159895600-159898200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:159895800-159896400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:159895800-159896400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr1:159895800-159896400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:159895800-159896400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr1:159895800-159896400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:159895800-159896400	Enhancers	Liver	Liver
15	chr1:159895800-159896400	Flanking Active TSS	Rectal Smooth Muscle	rectum
16	chr1:159895800-159896400	Flanking Active TSS	Right Ventricle	heart
17	chr1:159895800-159896400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:159895800-159896600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:159895800-159896600	Enhancers	Fetal Heart	heart
20	chr1:159895800-159896800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:159895800-159898800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:159895800-159899000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:159895800-159899200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:159895800-159906600	Weak transcription	Small Intestine	intestine
25	chr1:159896000-159896400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:159896000-159896400	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:159896000-159896400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:159896000-159896400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:159896000-159896400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:159896000-159896400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:159896000-159896400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr1:159896000-159896400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:159896000-159896400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:159896000-159896400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:159896000-159896400	Enhancers	Brain Substantia Nigra	brain
36	chr1:159896000-159896400	Flanking Active TSS	Fetal Kidney	kidney
37	chr1:159896000-159896400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr1:159896000-159896400	Enhancers	Fetal Muscle Leg	muscle
39	chr1:159896000-159896400	Enhancers	Placenta	Placenta
40	chr1:159896000-159896400	Enhancers	Fetal Thymus	thymus
41	chr1:159896000-159896400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr1:159896000-159896400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr1:159896000-159896400	Enhancers	Thymus	Thymus
44	chr1:159896000-159896400	Enhancers	Dnd41	blood
45	chr1:159896000-159896400	Enhancers	HSMM	muscle
46	chr1:159896000-159896400	Genic enhancers	NHEK	skin
47	chr1:159896000-159896600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:159896000-159896600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:159896000-159896600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr1:159896000-159896600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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