Variant report

Variant	rs189450640
Chromosome Location	chr7:150067853-150067854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:150064930-150072034	GM12878	blood:	n/a	n/a
2	CTCF	chr7:150067780-150067930	NHDF-neo	bronchial:	n/a	n/a
3	POLR2A	chr7:150067350-150067987	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:150067738-150068912	GM12891	blood:	n/a	n/a
5	POLR2A	chr7:150065018-150068478	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:150067686-150068008	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:150065024-150068774	GM12892	blood:	n/a	n/a
8	JUND	chr7:150067726-150068045	HepG2	liver:	n/a	chr7:150067971-150067979
9	POLR2A	chr7:150065045-150069575	GM18526	blood:	n/a	n/a
10	TBP	chr7:150067651-150068054	HepG2	liver:	n/a	n/a
11	CTCF	chr7:150067820-150067970	HRPEpiC	eye:	n/a	n/a
12	POLR2A	chr7:150065010-150072093	GM12878	blood:	n/a	n/a
13	CTCF	chr7:150067800-150067950	AG09309	skin:	n/a	n/a
14	POLR2A	chr7:150064939-150068709	GM12878	blood:	n/a	n/a
15	TEAD4	chr7:150067697-150068174	HepG2	liver:	n/a	n/a
16	MXI1	chr7:150067741-150068451	IMR90	lung:	n/a	chr7:150068088-150068103 chr7:150068090-150068105
17	POLR2A	chr7:150065058-150068789	K562	blood:	n/a	n/a
18	POLR2A	chr7:150064808-150069359	K562	blood:	n/a	n/a
19	POLR2A	chr7:150065044-150070916	GM19193	blood:	n/a	n/a
20	POLR2A	chr7:150064841-150068822	HL-60	blood:	n/a	n/a
21	MXI1	chr7:150064165-150068175	SK-N-SH	brain:	n/a	chr7:150068088-150068103 chr7:150065688-150065703 chr7:150065860-150065869 chr7:150068090-150068105 chr7:150065686-150065701
22	HEY1	chr7:150065020-150068404	K562	blood:	n/a	chr7:150065245-150065260 chr7:150065724-150065739
23	CEBPB	chr7:150067666-150068010	HepG2	liver:	n/a	n/a
24	POLR2A	chr7:150064968-150071009	K562	blood:	n/a	n/a
25	POLR2A	chr7:150067692-150068378	HepG2	liver:	n/a	n/a
26	POLR2A	chr7:150065515-150069259	HepG2	liver:	n/a	n/a
27	CTCF	chr7:150067840-150067990	HBMEC	blood vessel:	n/a	n/a
28	POLR2A	chr7:150065009-150070940	GM18505	blood:	n/a	n/a
29	POLR2A	chr7:150064860-150068447	GM12891	blood:	n/a	n/a
30	POLR2A	chr7:150064952-150072087	GM12892	blood:	n/a	n/a
31	POLR2A	chr7:150064808-150068782	HepG2	liver:	n/a	n/a
32	RAD21	chr7:150067778-150068088	HepG2	liver:	n/a	n/a
33	RCOR1	chr7:150064690-150068362	IMR90	lung:	n/a	n/a
34	CTCF	chr7:150067780-150067930	HCPEpiC	choroid plexus:	n/a	n/a
35	MAFK	chr7:150067809-150068201	IMR90	lung:	n/a	n/a
36	CTCF	chr7:150067847-150068017	ProgFib	skin:	n/a	n/a
37	CTCF	chr7:150067740-150067890	NHDF-neo	bronchial:	n/a	n/a
38	POLR2A	chr7:150067172-150068109	GM12891	blood:	n/a	n/a
39	POLR2A	chr7:150067653-150068108	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr7:150064843-150076606	K562	blood:	n/a	n/a
41	POLR2A	chr7:150067691-150068104	SK-N-SH	brain:	n/a	n/a
42	CTCF	chr7:150067840-150068113	IMR90	lung:	n/a	n/a
43	POLR2A	chr7:150067735-150068428	IMR90	lung:	n/a	n/a
44	CTCF	chr7:150067780-150067930	HepG2	liver:	n/a	n/a
45	POLR2A	chr7:150067303-150068123	K562	blood:	n/a	n/a
46	POLR2A	chr7:150065057-150067878	HepG2	liver:	n/a	n/a
47	RAD21	chr7:150067804-150068199	IMR90	lung:	n/a	n/a
48	POLR2A	chr7:150067719-150067947	ProgFib	skin:	n/a	n/a
49	CTCF	chr7:150067820-150067970	HAc	cerebellar:	n/a	n/a
50	POLR2A	chr7:150067763-150068052	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150067807-150067857	HL-60	blood:	n/a
2	chr7:150067807-150067857	HCM	heart:	n/a
3	chr7:150067807-150067857	AG09309	skin:	n/a
4	chr7:150067807-150067857	SKMC	muscle:	n/a
5	chr7:150067807-150067857	CMK	blood:	n/a
6	chr7:150067807-150067857	MCF10A-Er-Src	breast:	n/a
7	chr7:150067807-150067857	MCF-7	breast:	n/a
8	chr7:150067807-150067857	GM19239	blood:	n/a
9	chr7:150067807-150067857	AG10803	skin:	n/a
10	chr7:150067807-150067857	SK-N-SH	brain:	n/a
11	chr7:150067807-150067857	HepG2	liver:	n/a
12	chr7:150067807-150067857	H1-hESC	embryonic stem cell:	embryo
13	chr7:150067807-150067857	LNCaP	prostate:	n/a
14	chr7:150067807-150067857	U87	brain:	n/a
15	chr7:150067807-150067857	PANC-1	pancreas:	n/a
16	chr7:150067807-150067857	NH-A	brain:	n/a
17	chr7:150067807-150067857	HAEpiC	amniotic membrane:	n/a
18	chr7:150067807-150067857	HEEpiC	esophagus:	n/a
19	chr7:150067807-150067857	HRE	kidney:	n/a
20	chr7:150067807-150067857	SAEC	small airway:	n/a
21	chr7:150067807-150067857	AG09319	gingival:	n/a
22	chr7:150067807-150067857	GM12891	blood:	n/a
23	chr7:150067807-150067857	NHBE	bronchial:	n/a
24	chr7:150067807-150067857	HRCEpiC	kidney:	n/a
25	chr7:150067807-150067857	HPAEpiC	pulmonary alveolar:	n/a
26	chr7:150067807-150067857	HRPEpiC	eye:	n/a
27	chr7:150067807-150067857	HMEC	breast:	n/a
28	chr7:150067807-150067857	HCPEpiC	choroid plexus:	n/a
29	chr7:150067807-150067857	AoSMC	blood vessel:	n/a
30	chr7:150067807-150067857	GM12878	blood:	n/a
31	chr7:150067807-150067857	ECC-1	luminal epithelium:	n/a
32	chr7:150067807-150067857	HNPCEpiC	eye:	n/a
33	chr7:150067807-150067857	NB4	blood:	n/a
34	chr7:150067807-150067857	K562	blood:	n/a
35	chr7:150067807-150067857	Hela-S3	cervix:	n/a
36	chr7:150067807-150067857	AG04449	skin:	fetal
37	chr7:150067807-150067857	RPTEC	kidney:	n/a
38	chr7:150067807-150067857	HEK293	kidney:	embryo
39	chr7:150067807-150067857	NHDF-neo	bronchial:	n/a
40	chr7:150067807-150067857	PrEC	prostate:	n/a
41	chr7:150067807-150067857	BJ	skin:	n/a
42	chr7:150067807-150067857	PFSK-1	brain:	n/a
43	chr7:150067807-150067857	Hepatocyte	liver:	n/a
44	chr7:150067807-150067857	GM06990	blood:	n/a
45	chr7:150067807-150067857	BE2_C	brain:	n/a
46	chr7:150067807-150067857	GM12892	blood:	n/a
47	chr7:150067807-150067857	NT2-D1	testis:	n/a
48	chr7:150067807-150067857	HUVEC	blood vessel:	n/a
49	chr7:150067807-150067857	ProgFib	skin:	n/a
50	chr7:150067807-150067857	Jurkat	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150063876..150080670-chr7:150093696..150109118,65	MCF-7	breast:
2	chr7:150016171..150021897-chr7:150062899..150068795,19	MCF-7	breast:
3	chr7:150066102..150068231-chr7:150757822..150759698,2	MCF-7	breast:
4	chr7:150063752..150069023-chr7:150095376..150104764,21	MCF-7	breast:
5	chr7:150017186..150022141-chr7:150063447..150068849,12	K562	blood:
6	chr7:149570954..149573807-chr7:150065336..150068583,3	MCF-7	breast:
7	chr7:150065484..150068056-chr7:150811875..150813765,2	MCF-7	breast:

No data

Variant related genes	Relation type
REPIN1	TF binding region
REPIN1	CpG island
ENSG00000196456	Chromatin interaction
ENSG00000164889	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000127399	Chromatin interaction
ENSG00000171130	Chromatin interaction
ENSG00000106526	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv889453	chr7:150009838-150104410	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv889454	chr7:150009838-150115183	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv889455	chr7:150013393-150104410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv889456	chr7:150013393-150115183	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
9	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	nsv889457	chr7:150020295-150104410	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv889458	chr7:150020295-150115183	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv521407	chr7:150020295-150118590	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv465211	chr7:150035526-150104410	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv608991	chr7:150035526-150104410	Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
15	nsv889459	chr7:150041610-150071464	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
16	nsv608992	chr7:150045910-150115183	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	esv1819714	chr7:150055837-150154944	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
18	nsv889460	chr7:150060163-150079459	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
19	nsv889461	chr7:150060163-150081485	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
20	nsv889462	chr7:150060163-150108536	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	esv1814724	chr7:150067445-150070663	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	esv3329052	chr7:150067844-150070392	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150065000-150068400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:150065400-150073600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr7:150066200-150068000	Flanking Active TSS	Colonic Mucosa	Colon
4	chr7:150066200-150069200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
5	chr7:150066400-150068400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
6	chr7:150066400-150068600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:150066600-150068000	Flanking Active TSS	Osteobl	bone
8	chr7:150066600-150068400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
9	chr7:150066800-150068000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:150066800-150068000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr7:150066800-150068000	Flanking Active TSS	Fetal Heart	heart
12	chr7:150066800-150068200	Weak transcription	Aorta	Aorta
13	chr7:150066800-150068200	Transcr. at gene 5' and 3'	Thymus	Thymus
14	chr7:150066800-150068200	Enhancers	HMEC	breast
15	chr7:150066800-150068400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:150067000-150068000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:150067000-150068000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
18	chr7:150067000-150068000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
19	chr7:150067000-150068000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
20	chr7:150067000-150068000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:150067000-150068000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
22	chr7:150067000-150068000	Transcr. at gene 5' and 3'	A549	lung
23	chr7:150067000-150068000	Transcr. at gene 5' and 3'	Hela-S3	cervix
24	chr7:150067000-150068600	Weak transcription	Ovary	ovary
25	chr7:150067000-150070400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:150067000-150070800	Genic enhancers	Spleen	Spleen
27	chr7:150067200-150068000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr7:150067200-150068000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr7:150067200-150068000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr7:150067200-150068000	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
31	chr7:150067200-150068000	Flanking Active TSS	HSMM	muscle
32	chr7:150067200-150068200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr7:150067200-150068200	Genic enhancers	Primary B cells from peripheral blood	blood
34	chr7:150067200-150068200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:150067200-150068200	Genic enhancers	Placenta	Placenta
36	chr7:150067200-150068400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:150067200-150068400	Genic enhancers	Brain Substantia Nigra	brain
38	chr7:150067200-150068600	Genic enhancers	Lung	lung
39	chr7:150067200-150069000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
40	chr7:150067200-150069000	Enhancers	Fetal Brain Male	brain
41	chr7:150067200-150069200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:150067200-150071000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:150067200-150072000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
44	chr7:150067400-150068000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr7:150067400-150068000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr7:150067400-150068000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
47	chr7:150067400-150068000	Genic enhancers	NHEK	skin
48	chr7:150067400-150068400	Enhancers	Esophagus	oesophagus
49	chr7:150067400-150068400	Genic enhancers	Fetal Lung	lung
50	chr7:150067400-150068400	Genic enhancers	Fetal Stomach	stomach

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