Variant report

Variant	rs17085985
Chromosome Location	chr6:149698813-149698814
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149691320..149693840-chr6:149697416..149698951,2	K562	blood:
2	chr6:149683181..149685215-chr6:149697904..149699618,2	MCF-7	breast:
3	chr6:149698800..149699364-chr8:109157847..109158643,2	MCF-7	breast:
4	chr6:149641665..149643677-chr6:149697235..149699195,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs17086054	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34024129	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35391071	1.00[EUR][1000 genomes]
rs35507156	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55763048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56126528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56390023	1.00[EUR][1000 genomes]
rs56836556	1.00[EUR][1000 genomes]
rs57234155	1.00[EUR][1000 genomes]
rs57240808	1.00[EUR][1000 genomes]
rs58467138	1.00[EUR][1000 genomes]
rs59090184	0.87[AMR][1000 genomes]
rs59181586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59582367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60598581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60923183	1.00[EUR][1000 genomes]
rs6926168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6926360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6934491	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73604793	1.00[EUR][1000 genomes]
rs73779304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779313	1.00[EUR][1000 genomes]
rs73779314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73779333	1.00[EUR][1000 genomes]
rs73779345	1.00[EUR][1000 genomes]
rs73779346	1.00[EUR][1000 genomes]
rs73779354	1.00[EUR][1000 genomes]
rs73779366	1.00[EUR][1000 genomes]
rs73779373	1.00[EUR][1000 genomes]
rs73779376	1.00[EUR][1000 genomes]
rs7740647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7760102	1.00[EUR][1000 genomes]
rs7761612	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs935386	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv522875	chr6:149643709-149762537	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149660400-149699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:149674600-149699200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:149674600-149699200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:149674600-149699200	Weak transcription	Fetal Intestine Large	intestine
5	chr6:149677800-149699200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:149680000-149699200	Weak transcription	Fetal Brain Male	brain
7	chr6:149681200-149699200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:149681800-149699200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:149682600-149699200	Weak transcription	Esophagus	oesophagus
10	chr6:149682600-149699200	Weak transcription	Spleen	Spleen
11	chr6:149682600-149709200	Weak transcription	Psoas Muscle	Psoas
12	chr6:149682800-149699200	Weak transcription	Lung	lung
13	chr6:149683600-149699400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:149684600-149699200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:149685200-149699200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr6:149685200-149699400	Weak transcription	HMEC	breast
17	chr6:149685600-149699200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:149685600-149699200	Weak transcription	Gastric	stomach
19	chr6:149685600-149699400	Weak transcription	Brain Angular Gyrus	brain
20	chr6:149685600-149699400	Weak transcription	Fetal Intestine Small	intestine
21	chr6:149685800-149699200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:149685800-149699200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:149685800-149699200	Weak transcription	Fetal Stomach	stomach
24	chr6:149685800-149699200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr6:149685800-149699600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr6:149686000-149699200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:149686000-149709000	Weak transcription	Stomach Mucosa	stomach
28	chr6:149686200-149699200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:149686400-149699200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr6:149686600-149699200	Weak transcription	Brain Substantia Nigra	brain
31	chr6:149687400-149699000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:149687600-149699200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:149687600-149699200	Weak transcription	K562	blood
34	chr6:149687800-149699200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:149687800-149699200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr6:149687800-149699200	Weak transcription	Right Ventricle	heart
37	chr6:149687800-149699200	Weak transcription	HUVEC	blood vessel
38	chr6:149687800-149726400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:149688000-149699000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:149688600-149699200	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:149688600-149699200	Weak transcription	HSMMtube	muscle
42	chr6:149689000-149699200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:149689400-149699000	Weak transcription	Osteobl	bone
44	chr6:149689600-149699200	Weak transcription	Thymus	Thymus
45	chr6:149689800-149699000	Weak transcription	Fetal Brain Female	brain
46	chr6:149689800-149699200	Weak transcription	Brain Germinal Matrix	brain
47	chr6:149689800-149699200	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:149690400-149699200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:149691000-149699200	Weak transcription	NHLF	lung
50	chr6:149691200-149699200	Weak transcription	Colonic Mucosa	Colon

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