Variant report

Variant	rs200067760
Chromosome Location	chr1:161130812-161130813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161130236-161130932	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr1:161128550-161131005	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr1:161130697-161130915	K562	blood:	n/a	n/a
4	POLR2A	chr1:161130507-161130814	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:161130128-161130886	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:161100691..161104235-chr1:161128857..161130819,4	K562	blood:
2	chr1:161067905..161072134-chr1:161127935..161131211,3	MCF-7	breast:
3	chr1:161130520..161133056-chr1:161166006..161167736,2	K562	blood:
4	chr1:161129146..161131988-chr1:161170465..161172275,2	MCF-7	breast:
5	chr1:161085978..161089990-chr1:161127865..161134037,11	K562	blood:
6	chr1:161011414..161013032-chr1:161129851..161132212,2	K562	blood:
7	chr1:161101282..161104235-chr1:161127986..161130833,4	MCF-7	breast:
8	chr1:161085658..161090812-chr1:161125926..161133105,17	K562	blood:

No data

Variant related genes	Relation type
USP21	TF binding region
ENSG00000224985	TF binding region
ENSG00000158864	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000158773	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3489555	chr1:161129735-161131477	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
3	esv3489556	chr1:161129735-161131477	Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161129600-161131000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr1:161129600-161131000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr1:161129800-161133200	Transcr. at gene 5' and 3'	K562	blood
4	chr1:161129800-161135400	Weak transcription	Aorta	Aorta
5	chr1:161130000-161131000	Enhancers	Left Ventricle	heart
6	chr1:161130000-161131400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:161130000-161131400	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:161130000-161135600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:161130200-161131000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:161130200-161131000	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr1:161130200-161131000	Enhancers	Liver	Liver
12	chr1:161130200-161131000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:161130200-161131000	Enhancers	HMEC	breast
14	chr1:161130200-161131200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:161130200-161131200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr1:161130200-161131400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:161130200-161131400	Enhancers	Stomach Mucosa	stomach
18	chr1:161130200-161131600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:161130200-161131800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:161130200-161131800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:161130200-161131800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:161130200-161131800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:161130200-161131800	Genic enhancers	Fetal Muscle Trunk	muscle
24	chr1:161130200-161131800	Genic enhancers	Fetal Muscle Leg	muscle
25	chr1:161130200-161131800	Enhancers	Pancreas	Pancrea
26	chr1:161130200-161132000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:161130200-161132000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:161130200-161132000	Enhancers	Fetal Heart	heart
29	chr1:161130200-161132000	Genic enhancers	Fetal Stomach	stomach
30	chr1:161130200-161132200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:161130200-161132200	Genic enhancers	Placenta	Placenta
32	chr1:161130200-161132200	Weak transcription	HSMMtube	muscle
33	chr1:161130200-161132600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:161130200-161132800	Genic enhancers	Fetal Intestine Large	intestine
35	chr1:161130200-161135000	Weak transcription	Psoas Muscle	Psoas
36	chr1:161130200-161135200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:161130400-161131000	Enhancers	Primary B cells from cord blood	blood
38	chr1:161130400-161131000	Weak transcription	Fetal Lung	lung
39	chr1:161130400-161131000	Enhancers	GM12878-XiMat	blood
40	chr1:161130400-161131200	Genic enhancers	Brain Anterior Caudate	brain
41	chr1:161130400-161131400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:161130400-161131400	Genic enhancers	Colonic Mucosa	Colon
43	chr1:161130400-161131400	Enhancers	NHDF-Ad	bronchial
44	chr1:161130400-161131600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:161130400-161131600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:161130400-161131600	Weak transcription	HSMM	muscle
47	chr1:161130400-161131800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:161130400-161131800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:161130400-161131800	Genic enhancers	Brain Cingulate Gyrus	brain
50	chr1:161130400-161131800	Genic enhancers	Brain Hippocampus Middle	brain

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