Variant report

Variant	rs71645926
Chromosome Location	chr7:140625548-140625549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
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	KAP1	chr7:140624848-140625765	K562	blood:	n/a	n/a
2	JUND	chr7:140622356-140625981	SK-N-SH	brain:	n/a	chr7:140623694-140623703 chr7:140624751-140624760 chr7:140624840-140624849 chr7:140623251-140623263 chr7:140624822-140624831
3	RCOR1	chr7:140623151-140625608	IMR90	lung:	n/a	n/a
4	CREB1	chr7:140623277-140625770	K562	blood:	n/a	chr7:140624820-140624833
5	JUN	chr7:140624568-140625909	K562	blood:	n/a	chr7:140624836-140624849 chr7:140624751-140624760 chr7:140624821-140624834 chr7:140624840-140624849 chr7:140624822-140624831

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:140625510-140625560	ovcar-3	ovarian:	n/a
2	chr7:140625510-140625560	AoSMC	blood vessel:	n/a
3	chr7:140625510-140625560	HCM	heart:	n/a
4	chr7:140625510-140625560	NHBE	bronchial:	n/a
5	chr7:140625510-140625560	HRCEpiC	kidney:	n/a
6	chr7:140625510-140625560	H1-hESC	embryonic stem cell:	embryo
7	chr7:140625510-140625560	ProgFib	skin:	n/a
8	chr7:140625510-140625560	GM19239	blood:	n/a
9	chr7:140625510-140625560	PANC-1	pancreas:	n/a
10	chr7:140625510-140625560	AG09309	skin:	n/a
11	chr7:140625510-140625560	HNPCEpiC	eye:	n/a
12	chr7:140625510-140625560	NB4	blood:	n/a
13	chr7:140625510-140625560	GM12892	blood:	n/a
14	chr7:140625510-140625560	HIPEpiC	eye:	n/a
15	chr7:140625510-140625560	AG04449	skin:	fetal
16	chr7:140625510-140625560	CMK	blood:	n/a
17	chr7:140625510-140625560	HRPEpiC	eye:	n/a
18	chr7:140625510-140625560	SKMC	muscle:	n/a
19	chr7:140625510-140625560	A549	lung:	n/a
20	chr7:140625510-140625560	HCPEpiC	choroid plexus:	n/a
21	chr7:140625510-140625560	BJ	skin:	n/a
22	chr7:140625510-140625560	NH-A	brain:	n/a
23	chr7:140625510-140625560	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:140625510-140625560	Jurkat	blood:	n/a
25	chr7:140625510-140625560	HEEpiC	esophagus:	n/a
26	chr7:140625510-140625560	SK-N-SH_RA	brain:	n/a
27	chr7:140625510-140625560	Caco-2	colon:	n/a
28	chr7:140625510-140625560	HL-60	blood:	n/a
29	chr7:140625510-140625560	PrEC	prostate:	n/a
30	chr7:140625510-140625560	GM12878	blood:	n/a
31	chr7:140625510-140625560	HCT-116	colon:	n/a
32	chr7:140625510-140625560	HUVEC	blood vessel:	n/a
33	chr7:140625510-140625560	RPTEC	kidney:	n/a
34	chr7:140625510-140625560	SK-N-MC	brain:	n/a
35	chr7:140625510-140625560	T-47D	breast:	n/a
36	chr7:140625510-140625560	HRE	kidney:	n/a
37	chr7:140625510-140625560	NHDF-neo	bronchial:	n/a
38	chr7:140625510-140625560	HCF	heart:	n/a
39	chr7:140625510-140625560	IMR90	lung:	fetal
40	chr7:140625510-140625560	PFSK-1	brain:	n/a
41	chr7:140625510-140625560	ECC-1	luminal epithelium:	n/a
42	chr7:140625510-140625560	Hela-S3	cervix:	n/a
43	chr7:140625510-140625560	AG09319	gingival:	n/a
44	chr7:140625510-140625560	MCF10A-Er-Src	breast:	n/a
45	chr7:140625510-140625560	NT2-D1	testis:	n/a
46	chr7:140625510-140625560	HMEC	breast:	n/a
47	chr7:140625510-140625560	SK-N-SH	brain:	n/a
48	chr7:140625510-140625560	LNCaP	prostate:	n/a
49	chr7:140625510-140625560	HEK293	kidney:	embryo
50	chr7:140625510-140625560	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr7:140625504..140628313-chr7:140642636..140644756,2	K562	blood:
2	chr7:140625343..140628260-chr7:140713839..140715821,2	MCF-7	breast:
3	chr7:140624883..140626746-chr7:140635141..140637023,2	K562	blood:
4	chr7:140395267..140398426-chr7:140622802..140626309,6	K562	blood:
5	chr7:140621424..140625988-chr7:140712136..140716057,7	K562	blood:
6	chr7:140621424..140625828-chr7:140713150..140716057,6	K562	blood:
7	chr7:140395805..140398704-chr7:140623265..140626329,4	K562	blood:

No data

Variant related genes	Relation type
BRAF	TF binding region
BRAF	CpG island
ENSG00000090266	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000090263	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10271387	1.00[ASN][1000 genomes]
rs10279193	1.00[ASN][1000 genomes]
rs1091374	1.00[ASN][1000 genomes]
rs12534351	1.00[ASN][1000 genomes]
rs12534354	1.00[ASN][1000 genomes]
rs1860481	1.00[ASN][1000 genomes]
rs2079829	1.00[ASN][1000 genomes]
rs246738	1.00[ASN][1000 genomes]
rs246740	1.00[ASN][1000 genomes]
rs246741	1.00[ASN][1000 genomes]
rs246742	1.00[ASN][1000 genomes]
rs246743	1.00[ASN][1000 genomes]
rs246744	1.00[ASN][1000 genomes]
rs2533300	1.00[ASN][1000 genomes]
rs2533307	1.00[ASN][1000 genomes]
rs2533308	1.00[ASN][1000 genomes]
rs2688429	1.00[ASN][1000 genomes]
rs3844322	1.00[ASN][1000 genomes]
rs38716	1.00[ASN][1000 genomes]
rs38725	1.00[ASN][1000 genomes]
rs38727	1.00[ASN][1000 genomes]
rs38728	1.00[ASN][1000 genomes]
rs38729	1.00[ASN][1000 genomes]
rs38737	1.00[ASN][1000 genomes]
rs4020017	1.00[ASN][1000 genomes]
rs4020018	1.00[ASN][1000 genomes]
rs4726134	1.00[ASN][1000 genomes]
rs6949856	1.00[ASN][1000 genomes]
rs6950813	1.00[ASN][1000 genomes]
rs7778860	1.00[ASN][1000 genomes]
rs7782666	1.00[ASN][1000 genomes]
rs801096	1.00[ASN][1000 genomes]
rs801097	1.00[ASN][1000 genomes]
rs9640306	1.00[ASN][1000 genomes]

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	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3422481	chr7:140623508-140626056	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140622200-140625600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr7:140622600-140625600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:140622800-140625600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:140622800-140625600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:140622800-140625600	Active TSS	K562	blood
6	chr7:140623000-140625600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:140623000-140625600	Active TSS	Brain Anterior Caudate	brain
8	chr7:140623000-140625600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr7:140623200-140625600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:140623200-140625600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr7:140623200-140625600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:140623200-140625600	Active TSS	NHDF-Ad	bronchial
13	chr7:140623600-140625600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:140623600-140625600	Active TSS	Brain Cingulate Gyrus	brain
15	chr7:140623600-140625600	Active TSS	Rectal Smooth Muscle	rectum
16	chr7:140623600-140625600	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr7:140623800-140625600	Active TSS	Fetal Brain Male	brain
18	chr7:140624400-140625600	Active TSS	Brain Germinal Matrix	brain
19	chr7:140625000-140625600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr7:140625000-140625600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr7:140625000-140625600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr7:140625000-140625600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr7:140625000-140625600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr7:140625000-140625600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:140625000-140625600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:140625000-140625600	Flanking Active TSS	Liver	Liver
27	chr7:140625000-140625600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr7:140625000-140626000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:140625200-140625600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr7:140625200-140625600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:140625200-140625600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:140625200-140625600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr7:140625200-140625600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:140625200-140625600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr7:140625200-140625600	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr7:140625200-140625600	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr7:140625200-140625600	Flanking Active TSS	Fetal Intestine Large	intestine
38	chr7:140625200-140625600	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr7:140625200-140625600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr7:140625200-140625600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr7:140625200-140625600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr7:140625200-140627200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:140625200-140627400	Weak transcription	Small Intestine	intestine
44	chr7:140625400-140625600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:140625400-140625600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr7:140625400-140625600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr7:140625400-140625600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr7:140625400-140625600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:140625400-140625600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr7:140625400-140625600	Enhancers	Primary neutrophils fromperipheralblood	blood

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