Variant report

Variant	rs73463834
Chromosome Location	chr6:75918900-75918901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:75918800-75918950	HPAF	blood vessel:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
2	TBL1XR1	chr6:75918679-75919010	K562	blood:	n/a	n/a
3	CTCF	chr6:75918760-75918910	GM12865	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
4	CTCF	chr6:75918633-75919027	H1-hESC	embryonic stem cell:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
5	SMC3	chr6:75918663-75919025	HepG2	liver:	n/a	chr6:75918836-75918850
6	CTCF	chr6:75918266-75919229	A549	lung:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
7	CTCF	chr6:75918780-75918930	GM12801	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
8	MAX	chr6:75918545-75919026	A549	lung:	n/a	n/a
9	CTCF	chr6:75918730-75918956	GM10248	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
10	RAD21	chr6:75918564-75919052	GM12878	blood:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
11	CTCF	chr6:75918780-75918930	Hela-S3	cervix:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
12	CTCF	chr6:75918780-75918930	GM12865	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
13	STAT1	chr6:75918581-75918913	GM12878	blood:	n/a	n/a
14	CTCF	chr6:75918760-75918910	MCF-7	breast:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
15	CTCF	chr6:75918760-75918910	SAEC	small airway:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
16	CTCF	chr6:75918760-75918910	GM12874	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
17	SMC3	chr6:75918475-75919255	SK-N-SH	brain:	n/a	chr6:75918836-75918850
18	RAD21	chr6:75918569-75919016	K562	blood:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
19	CTCF	chr6:75918715-75918955	Fibrobl	skin:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
20	CTCF	chr6:75918800-75918950	HAc	cerebellar:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
21	RAD21	chr6:75918438-75919201	HCT-116	colon:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
22	CTCF	chr6:75918760-75918910	NB4	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
23	CTCF	chr6:75918644-75919212	K562	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
24	CTCF	chr6:75918718-75918963	GM19239	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
25	CTCF	chr6:75918800-75918950	GM12865	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
26	CTCF	chr6:75918727-75918972	MCF-7	breast:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
27	CTCF	chr6:75918702-75918987	MCF-7	breast:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
28	CTCF	chr6:75918780-75918930	WI-38	lung:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
29	CTCF	chr6:75918709-75918952	MCF-7	breast:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
30	CTCF	chr6:75918672-75918967	K562	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
31	MAZ	chr6:75918625-75919007	K562	blood:	n/a	n/a
32	WRNIP1	chr6:75918357-75919038	GM12878	blood:	n/a	n/a
33	CTCF	chr6:75918840-75918990	GM12873	blood:	n/a	n/a
34	CTCF	chr6:75918760-75918910	K562	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
35	CTCF	chr6:75918780-75918930	Caco-2	colon:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
36	CTCF	chr6:75918585-75919122	MCF-7	breast:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
37	CTCF	chr6:75918402-75919183	HCT-116	colon:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
38	CTCF	chr6:75918780-75918930	SK-N-SH_RA	brain:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
39	RFX5	chr6:75918526-75918944	GM12878	blood:	n/a	n/a
40	CTCF	chr6:75918760-75918910	HCPEpiC	choroid plexus:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
41	CTCF	chr6:75918800-75918950	BE2_C	brain:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
42	E2F6	chr6:75918503-75919036	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr6:75918800-75918950	GM12873	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
44	CTCF	chr6:75918693-75918989	LNCaP	prostate:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
45	CTCF	chr6:75918800-75918950	GM12870	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
46	CTCF	chr6:75918683-75918926	T-47D	breast:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
47	CTCF	chr6:75918780-75918930	HCM	heart:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
48	CTCF	chr6:75918694-75919000	GM12878	blood:	n/a	chr6:75918829-75918850 chr6:75918834-75918852 chr6:75918835-75918851
49	RAD21	chr6:75918598-75919053	HepG2	liver:	n/a	chr6:75918842-75918849 chr6:75918832-75918851
50	CHD1	chr6:75918599-75919017	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:75118557..75119496-chr6:75918100..75919176,3	MCF-7	breast:
2	chr6:74448547..74449464-chr6:75918352..75919189,6	K562	blood:
3	chr6:75053590..75054206-chr6:75918614..75919395,2	MCF-7	breast:
4	chr6:74448654..74449240-chr6:75918596..75919233,3	MCF-7	breast:
5	chr6:74495117..74497243-chr6:75916088..75918968,2	MCF-7	breast:

Variant related genes	Relation type
COL12A1	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1203210	0.92[ASN][1000 genomes]
rs1323069	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1407733	0.96[ASN][1000 genomes]
rs1407734	0.92[ASN][1000 genomes]
rs171261	0.90[ASN][1000 genomes]
rs1967709	0.96[ASN][1000 genomes]
rs1998454	0.96[ASN][1000 genomes]
rs240363	0.96[ASN][1000 genomes]
rs240365	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs240366	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs240433	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3777506	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56131181	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57613317	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs588691	0.96[ASN][1000 genomes]
rs601846	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73450107	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73463831	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73463835	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743003	0.92[ASN][1000 genomes]
rs743005	0.92[ASN][1000 genomes]
rs7768671	0.92[ASN][1000 genomes]
rs7774649	0.87[ASN][1000 genomes]
rs910523	0.96[ASN][1000 genomes]
rs9443160	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022377	chr6:75762463-75919592	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv538309	chr6:75762463-75919592	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv463155	chr6:75789526-75980419	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv603762	chr6:75789526-75980419	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv886181	chr6:75852488-75919484	Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers 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	70 gene(s)	inside rSNPs	diseases
10	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75917600-75946600	Weak transcription	Lung	lung
2	chr6:75917800-75919200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:75918600-75920400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:75918800-75919000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr6:75918800-75919000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr6:75918800-75919000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr6:75918800-75919000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:75918800-75919000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr6:75918800-75919000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr6:75918800-75919000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:75918800-75919000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:75918800-75919000	Enhancers	Liver	Liver
13	chr6:75918800-75919000	Enhancers	Fetal Intestine Small	intestine
14	chr6:75918800-75919000	Bivalent Enhancer	Fetal Lung	lung
15	chr6:75918800-75919000	Enhancers	HSMMtube	muscle
16	chr6:75918800-75919200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr6:75918800-75919200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr6:75918800-75919200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:75918800-75919200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:75918800-75919200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr6:75918800-75919400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr6:75918800-75919600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr6:75918800-75919800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:75918800-75920000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:75918800-75920600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:75918800-75920600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr6:75918800-75920800	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:75918800-75920800	Weak transcription	Left Ventricle	heart
29	chr6:75918800-75920800	Weak transcription	Osteobl	bone
30	chr6:75918800-75921000	Weak transcription	Hela-S3	cervix
31	chr6:75918800-75921200	Weak transcription	A549	lung
32	chr6:75918800-75921400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:75918800-75921400	Weak transcription	HSMM	muscle
34	chr6:75918800-75921600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:75918800-75921600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:75918800-75921600	Weak transcription	Right Atrium	heart
37	chr6:75918800-75921600	Weak transcription	NH-A	brain
38	chr6:75918800-75921600	Weak transcription	NHEK	skin
39	chr6:75918800-75921600	Weak transcription	NHLF	lung
40	chr6:75918800-75921800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:75918800-75922000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:75918800-75922600	Weak transcription	Right Ventricle	heart
43	chr6:75918800-75924600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:75918800-75925000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:75918800-75925000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:75918800-75926400	Weak transcription	NHDF-Ad	bronchial
47	chr6:75918800-75926600	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:75918800-75926600	Weak transcription	Ovary	ovary
49	chr6:75918800-75926800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:75918800-75926800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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