Variant report

Variant	rs17076671
Chromosome Location	chr6:147551381-147551382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:147177494..147180338-chr6:147550620..147552956,2	K562	blood:

Variant related genes	Relation type
ENSG00000227748	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1034245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes]
rs10457811	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10499247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17076689	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41285881	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58371914	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58638359	0.91[EUR][1000 genomes]
rs61120449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6921496	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73787171	0.84[AMR][1000 genomes]
rs73788817	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73788833	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73788845	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73788902	0.86[AFR][1000 genomes]
rs7743335	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9485155	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9485159	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9497729	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9497738	0.84[AFR][1000 genomes]
rs9497740	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9497747	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9497762	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv886753	chr6:147526508-147680291	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv470864	chr6:147539165-147709179	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv886754	chr6:147539165-147729477	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv604840	chr6:147539165-147730324	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147526000-147572200	Weak transcription	Lung	lung
2	chr6:147527200-147557800	Weak transcription	Fetal Stomach	stomach
3	chr6:147527200-147570000	Weak transcription	Left Ventricle	heart
4	chr6:147527200-147572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:147527200-147572200	Weak transcription	Esophagus	oesophagus
6	chr6:147527400-147558800	Weak transcription	Primary B cells from cord blood	blood
7	chr6:147527400-147563800	Weak transcription	NH-A	brain
8	chr6:147527400-147566800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:147527400-147576400	Weak transcription	HSMMtube	muscle
10	chr6:147527600-147559600	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:147527800-147586800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:147528200-147551800	Weak transcription	HUVEC	blood vessel
13	chr6:147528800-147565800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr6:147528800-147572000	Weak transcription	A549	lung
15	chr6:147529000-147572200	Weak transcription	Aorta	Aorta
16	chr6:147529400-147571800	Weak transcription	Fetal Brain Male	brain
17	chr6:147530000-147572000	Weak transcription	NHEK	skin
18	chr6:147533200-147572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:147534000-147572200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:147535800-147557600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:147537600-147572200	Weak transcription	Ovary	ovary
22	chr6:147537800-147571600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:147538200-147572200	Weak transcription	Spleen	Spleen
24	chr6:147538400-147572200	Weak transcription	Fetal Lung	lung
25	chr6:147538800-147572200	Weak transcription	Placenta	Placenta
26	chr6:147540200-147559200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:147540200-147569600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:147540200-147572000	Weak transcription	Thymus	Thymus
29	chr6:147540800-147561800	Weak transcription	Fetal Kidney	kidney
30	chr6:147542400-147590800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr6:147543800-147552000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr6:147543800-147556400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:147543800-147556800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:147543800-147556800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:147543800-147557600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr6:147543800-147557800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr6:147543800-147557800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:147543800-147559000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:147543800-147560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr6:147543800-147561800	Weak transcription	Adipose Nuclei	Adipose
41	chr6:147543800-147562000	Weak transcription	NHLF	lung
42	chr6:147543800-147562600	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:147543800-147563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:147543800-147566200	Weak transcription	Stomach Mucosa	stomach
45	chr6:147543800-147572200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr6:147543800-147588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr6:147544000-147553000	Weak transcription	Brain Anterior Caudate	brain
48	chr6:147544000-147559200	Weak transcription	Fetal Intestine Small	intestine
49	chr6:147544000-147561800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:147544000-147572200	Weak transcription	GM12878-XiMat	blood

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