Variant report

Variant	rs6678564
Chromosome Location	chr1:92257650-92257651
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92243502..92246899-chr1:92255853..92258486,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10493858	0.86[YRI][hapmap]
rs10783026	0.81[ASN][1000 genomes]
rs10874940	1.00[CHB][hapmap]
rs10874941	0.93[CHB][hapmap]
rs10874976	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10875001	0.83[JPT][hapmap]
rs11165489	1.00[CHB][hapmap]
rs11165532	0.93[CHB][hapmap]
rs11466573	0.86[ASN][1000 genomes]
rs12090296	1.00[CHB][hapmap]
rs12125313	0.88[ASN][1000 genomes]
rs12756024	0.93[CHB][hapmap]
rs1411276	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs1473486	0.93[CHB][hapmap]
rs1473488	0.93[CHB][hapmap]
rs2004067	0.86[ASN][1000 genomes]
rs2297142	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs2391068	1.00[CHB][hapmap]
rs2391069	1.00[CHB][hapmap]
rs5019497	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs6604054	0.93[CHB][hapmap]
rs6604055	0.93[CHB][hapmap]
rs6604056	0.93[CHB][hapmap];0.86[ASN][1000 genomes]
rs6669044	1.00[CHB][hapmap]
rs6683840	0.93[CHB][hapmap]
rs6686126	0.81[CEU][hapmap]
rs6691098	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs7521065	1.00[CHB][hapmap]
rs7534318	1.00[CHB][hapmap]
rs7536947	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92245200-92261200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr1:92245600-92258400	Weak transcription	Brain Angular Gyrus	brain
3	chr1:92246800-92257800	Genic enhancers	NHDF-Ad	bronchial
4	chr1:92248200-92268800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr1:92248600-92262800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:92248600-92268800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:92249200-92263800	Weak transcription	Aorta	Aorta
8	chr1:92250400-92263800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:92253200-92263600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:92253800-92259400	Enhancers	Fetal Kidney	kidney
11	chr1:92254000-92258200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:92254000-92259000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:92254000-92269400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:92254400-92257800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:92254600-92259200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:92255000-92258000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:92255000-92258000	Weak transcription	HUVEC	blood vessel
18	chr1:92255000-92258800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:92255000-92259000	Enhancers	Fetal Heart	heart
20	chr1:92255200-92258600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:92255200-92258600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:92255200-92258600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr1:92255400-92258200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:92255400-92258800	Enhancers	Fetal Lung	lung
25	chr1:92255600-92258600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:92255600-92259000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:92255800-92258000	Enhancers	Primary T cells from cord blood	blood
28	chr1:92255800-92258200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:92255800-92258400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:92255800-92258400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:92255800-92258600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:92255800-92258600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:92255800-92258600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr1:92255800-92258600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:92255800-92258800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:92255800-92258800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:92255800-92258800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr1:92255800-92258800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:92255800-92258800	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:92255800-92258800	Genic enhancers	HepG2	liver
41	chr1:92255800-92258800	Enhancers	K562	blood
42	chr1:92255800-92259000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:92256000-92258600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr1:92256000-92258800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:92256000-92260600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr1:92256400-92258000	Enhancers	Fetal Thymus	thymus
47	chr1:92256400-92258600	Enhancers	Primary T cells fromperipheralblood	blood
48	chr1:92256400-92259000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:92256400-92259200	Enhancers	Placenta	Placenta
50	chr1:92256600-92258800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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