Variant report

Variant	rs188470656
Chromosome Location	chr3:42690366-42690367
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:42690178-42690402	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr3:42690237-42690820	GM12892	blood:	n/a	n/a
3	POLR2A	chr3:42690177-42691955	K562	blood:	n/a	n/a
4	POLR2A	chr3:42690361-42692444	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr3:42690194-42690686	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr3:42690230-42690440	MCF-7	breast:	n/a	n/a
7	POLR2A	chr3:42690325-42690845	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:42690363-42690411	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr3:42687656-42693228	K562	blood:	n/a	n/a
10	POLR2A	chr3:42690273-42691883	HepG2	liver:	n/a	n/a
11	POLR2A	chr3:42690301-42690655	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr3:42690256-42690409	K562	blood:	n/a	n/a
13	POLR2A	chr3:42690303-42691045	GM12892	blood:	n/a	n/a
14	POLR2A	chr3:42690264-42693660	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr3:42690191-42691572	K562	blood:	n/a	n/a
16	POLR2A	chr3:42690183-42690592	HepG2	liver:	n/a	n/a
17	POLR2A	chr3:42690317-42690709	GM12892	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:42671852..42674989-chr3:42686737..42692314,6	K562	blood:
2	chr3:42690176..42693159-chr3:42693581..42695274,2	MCF-7	breast:
3	chr3:42688509..42691154-chr3:42691239..42693774,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZBTB47	TF binding region
ENSG00000114853	Chromatin interaction
ENSG00000114857	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	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1818302	chr3:42688867-42709062	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv876731	chr3:42690285-42711655	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42651200-42693000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:42658200-42693000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:42658400-42691400	Strong transcription	Dnd41	blood
4	chr3:42668400-42692800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr3:42669000-42690600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:42669200-42691800	Strong transcription	Fetal Intestine Large	intestine
7	chr3:42669200-42692200	Strong transcription	Liver	Liver
8	chr3:42669400-42690600	Strong transcription	K562	blood
9	chr3:42669400-42691600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:42669400-42692200	Strong transcription	Fetal Muscle Leg	muscle
11	chr3:42669600-42691000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:42671000-42690800	Strong transcription	Placenta	Placenta
13	chr3:42671200-42690800	Strong transcription	NHDF-Ad	bronchial
14	chr3:42671200-42691400	Strong transcription	HSMM	muscle
15	chr3:42671200-42691600	Strong transcription	NH-A	brain
16	chr3:42671400-42690600	Strong transcription	Fetal Lung	lung
17	chr3:42671400-42692200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:42671400-42692200	Strong transcription	Adipose Nuclei	Adipose
19	chr3:42672000-42690600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr3:42672000-42691800	Strong transcription	Stomach Smooth Muscle	stomach
21	chr3:42672600-42692200	Strong transcription	Fetal Brain Female	brain
22	chr3:42673200-42692600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:42673600-42690400	Strong transcription	NHLF	lung
24	chr3:42674800-42692200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:42677000-42692800	Strong transcription	Fetal Stomach	stomach
26	chr3:42677600-42692600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr3:42680200-42690600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr3:42680600-42692400	Strong transcription	Fetal Intestine Small	intestine
29	chr3:42680800-42692200	Weak transcription	Right Atrium	heart
30	chr3:42681000-42690600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr3:42681000-42690600	Strong transcription	GM12878-XiMat	blood
32	chr3:42681200-42691000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:42681400-42691400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr3:42682600-42690800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:42682800-42690600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:42682800-42690600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:42682800-42692200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:42683000-42690400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:42683200-42691000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:42683200-42692200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr3:42683600-42690400	Strong transcription	HUVEC	blood vessel
42	chr3:42683800-42690600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:42683800-42691000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:42683800-42691000	Strong transcription	HMEC	breast
45	chr3:42685000-42693600	Weak transcription	Stomach Mucosa	stomach
46	chr3:42686400-42692200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr3:42686400-42692600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:42686400-42695000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:42686600-42693800	Weak transcription	Colonic Mucosa	Colon
50	chr3:42686600-42694200	Weak transcription	Fetal Brain Male	brain

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