Variant report

Variant	rs240367
Chromosome Location	chr6:75917093-75917094
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:75917020-75917170	AG04449	skin:	n/a	n/a
2	ZNF143	chr6:75917014-75917191	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr6:75916980-75917130	HMF	breast:	n/a	n/a
4	CTCF	chr6:75917040-75917190	GM12872	blood:	n/a	n/a
5	SUZ12	chr6:75913908-75917770	H1-hESC	embryonic stem cell:	n/a	n/a
6	SUZ12	chr6:75913870-75918221	NT2-D1	testis:	n/a	n/a
7	CTCF	chr6:75916980-75917130	AG04449	skin:	n/a	n/a
8	YY1	chr6:75916751-75917356	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr6:75916748-75917814	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:75914858-75917612	H1-neurons	neurons:	n/a	n/a
11	TBP	chr6:75916619-75917804	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:75916847-75917296	ProgFib	skin:	n/a	n/a
13	CTCF	chr6:75917000-75917150	AG10803	skin:	n/a	n/a
14	CTCF	chr6:75917080-75917230	AG09309	skin:	n/a	n/a
15	CTBP2	chr6:75914069-75917676	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr6:75917040-75917190	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:74229352..74231539-chr6:75915151..75917818,2	MCF-7	breast:
2	chr6:74495117..74497243-chr6:75916088..75918968,2	MCF-7	breast:
3	chr6:75915774..75918712-chr6:75944046..75945609,2	MCF-7	breast:

No data

Variant related genes	Relation type
COL12A1	TF binding region
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs117512	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1203213	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs147523	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs15616	0.84[EUR][1000 genomes]
rs16886322	0.91[ASN][1000 genomes]
rs16886323	0.91[ASN][1000 genomes]
rs16886390	0.85[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs16886391	0.85[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs1831689	0.87[ASN][1000 genomes]
rs2274901	0.85[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs240368	0.94[EUR][1000 genomes]
rs240369	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs240381	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs240382	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs240383	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs240385	0.86[EUR][1000 genomes]
rs240386	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs240388	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs240389	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs240390	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs240392	0.84[EUR][1000 genomes]
rs240393	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs240396	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs240398	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs240400	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs240401	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs240402	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs240403	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs240404	0.86[EUR][1000 genomes]
rs240405	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs240409	0.91[EUR][1000 genomes]
rs240410	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs240418	0.81[JPT][hapmap]
rs240423	0.85[CEU][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes]
rs240424	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs240425	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs240429	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs240430	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs240431	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs240432	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs240716	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs240739	0.83[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs240740	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs34024604	0.84[ASN][1000 genomes]
rs3756790	0.85[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs3777503	0.84[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs381141	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs397039	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs414624	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs418485	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs429746	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs448854	0.86[EUR][1000 genomes]
rs507912	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs542717	0.94[EUR][1000 genomes]
rs545588	0.80[ASN][1000 genomes]
rs56705798	0.91[ASN][1000 genomes]
rs57762746	0.91[ASN][1000 genomes]
rs58104879	0.91[ASN][1000 genomes]
rs58259480	0.91[ASN][1000 genomes]
rs59338586	0.91[ASN][1000 genomes]
rs59681030	0.91[ASN][1000 genomes]
rs598034	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs601008	0.80[ASN][1000 genomes]
rs60309896	0.91[ASN][1000 genomes]
rs60808683	0.91[ASN][1000 genomes]
rs60891734	0.91[ASN][1000 genomes]
rs612266	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs61293108	0.92[ASN][1000 genomes]
rs638590	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs643707	0.91[EUR][1000 genomes]
rs654428	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs658592	0.80[ASN][1000 genomes]
rs683943	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6906960	0.86[ASN][1000 genomes]
rs73463837	0.92[ASN][1000 genomes]
rs73463838	0.92[ASN][1000 genomes]
rs73463840	0.92[ASN][1000 genomes]
rs73463847	0.92[ASN][1000 genomes]
rs73463851	0.92[ASN][1000 genomes]
rs73463852	0.92[ASN][1000 genomes]
rs73463855	0.92[ASN][1000 genomes]
rs73463859	0.92[ASN][1000 genomes]
rs73463862	0.92[ASN][1000 genomes]
rs73463865	0.92[ASN][1000 genomes]
rs73463868	0.92[ASN][1000 genomes]
rs73463869	0.92[ASN][1000 genomes]
rs73463875	0.92[ASN][1000 genomes]
rs73463878	0.92[ASN][1000 genomes]
rs73463879	0.92[ASN][1000 genomes]
rs73463881	0.92[ASN][1000 genomes]
rs73463884	0.92[ASN][1000 genomes]
rs73463885	0.92[ASN][1000 genomes]
rs73463887	0.92[ASN][1000 genomes]
rs73463888	0.92[ASN][1000 genomes]
rs73463889	0.90[ASN][1000 genomes]
rs73463890	0.92[ASN][1000 genomes]
rs73463895	0.92[ASN][1000 genomes]
rs73463897	0.92[ASN][1000 genomes]
rs73463898	0.92[ASN][1000 genomes]
rs73463899	0.92[ASN][1000 genomes]
rs73463900	0.92[ASN][1000 genomes]
rs73463901	0.92[ASN][1000 genomes]
rs73465805	0.91[ASN][1000 genomes]
rs73467620	0.91[ASN][1000 genomes]
rs73467622	0.91[ASN][1000 genomes]
rs73467625	0.91[ASN][1000 genomes]
rs73467626	0.91[ASN][1000 genomes]
rs73467628	0.91[ASN][1000 genomes]
rs73467636	0.91[ASN][1000 genomes]
rs73467639	0.91[ASN][1000 genomes]
rs73467641	0.91[ASN][1000 genomes]
rs73467644	0.91[ASN][1000 genomes]
rs73467651	0.91[ASN][1000 genomes]
rs73467652	0.91[ASN][1000 genomes]
rs73467656	0.91[ASN][1000 genomes]
rs73467659	0.87[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75913000-75918400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr6:75913600-75917200	Active TSS	NHDF-Ad	bronchial
3	chr6:75913600-75917400	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr6:75913600-75918400	Active TSS	Rectal Smooth Muscle	rectum
5	chr6:75913800-75917200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
6	chr6:75913800-75917600	Active TSS	Placenta Amnion	Placenta Amnion
7	chr6:75913800-75918000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr6:75913800-75918400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:75913800-75918600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:75913800-75918800	Active TSS	Right Atrium	heart
11	chr6:75914000-75918800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:75914200-75917200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:75914200-75917200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
14	chr6:75914200-75917800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:75914200-75917800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
16	chr6:75914200-75918200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr6:75914200-75918800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr6:75914400-75917800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
19	chr6:75914400-75917800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
20	chr6:75914400-75917800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
21	chr6:75914400-75917800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr6:75914400-75918400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:75914600-75917800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:75914800-75918400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr6:75914800-75918800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
26	chr6:75915000-75918200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
27	chr6:75915200-75917200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:75915200-75918400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr6:75915600-75918200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr6:75915800-75917200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
31	chr6:75915800-75917800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
32	chr6:75915800-75918800	Bivalent Enhancer	Placenta	Placenta
33	chr6:75916000-75917400	Weak transcription	Pancreas	Pancrea
34	chr6:75916000-75917800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:75916000-75918200	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr6:75916000-75918200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr6:75916000-75918200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
38	chr6:75916000-75918600	Bivalent Enhancer	Liver	Liver
39	chr6:75916000-75918600	Enhancers	Gastric	stomach
40	chr6:75916000-75918600	Enhancers	Spleen	Spleen
41	chr6:75916200-75917200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
42	chr6:75916200-75917400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr6:75916200-75917400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
44	chr6:75916200-75918000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:75916400-75917200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
46	chr6:75916400-75917200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr6:75916400-75917400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
48	chr6:75916400-75917400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
49	chr6:75916400-75917400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr6:75916400-75917600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood

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