Variant report

Variant	rs17080393
Chromosome Location	chr6:149268991-149268992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149068356..149069972-chr6:149268764..149269822,7	MCF-7	breast:
2	chr6:149067411..149067919-chr6:149268731..149269686,2	K562	blood:
3	chr6:149268772..149269675-chr6:149347358..149348174,2	MCF-7	breast:
4	chr6:148880601..148881536-chr6:149268722..149269257,2	K562	blood:
5	chr6:149151917..149153871-chr6:149267046..149269018,2	MCF-7	breast:
6	chr6:148899008..148899877-chr6:149268742..149269941,8	MCF-7	breast:
7	chr6:148898789..148900086-chr6:149268328..149269767,13	K562	blood:
8	chr6:149268784..149269462-chr6:149347343..149347994,2	K562	blood:
9	chr6:148899306..148899820-chr6:149268612..149269562,2	MCF-7	breast:
10	chr6:149267326..149269111-chr6:149270780..149273295,2	K562	blood:
11	chr6:149067355..149068145-chr6:149268892..149269692,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111962	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17080191	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17080392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032690	chr6:149206106-149398712	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149256600-149292600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:149257000-149285000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:149257600-149269000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr6:149257600-149276200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:149259200-149269000	Weak transcription	Dnd41	blood
6	chr6:149261400-149285000	Weak transcription	Spleen	Spleen
7	chr6:149262000-149289600	Weak transcription	Aorta	Aorta
8	chr6:149262200-149276200	Weak transcription	Pancreas	Pancrea
9	chr6:149263400-149269200	Weak transcription	Left Ventricle	heart
10	chr6:149263400-149275400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:149263400-149275600	Weak transcription	Primary B cells from cord blood	blood
12	chr6:149263400-149275600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:149263400-149275600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:149265200-149270800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:149266800-149276200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:149267000-149269000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:149267000-149276400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:149267200-149271000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:149267200-149273200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:149267200-149273400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:149268400-149269400	Enhancers	Ovary	ovary
22	chr6:149268400-149269600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:149268400-149269600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:149268600-149269400	Enhancers	Colon Smooth Muscle	Colon
25	chr6:149268600-149269400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr6:149268600-149269600	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:149268600-149269600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:149268600-149269600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:149268600-149269600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr6:149268600-149269600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:149268600-149269600	Enhancers	Fetal Muscle Leg	muscle
32	chr6:149268600-149270000	Enhancers	Stomach Mucosa	stomach
33	chr6:149268800-149269000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:149268800-149269000	Enhancers	Fetal Heart	heart
35	chr6:149268800-149269200	Enhancers	Fetal Kidney	kidney
36	chr6:149268800-149269400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:149268800-149269400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:149268800-149269400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:149268800-149269400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr6:149268800-149269400	Enhancers	Fetal Intestine Small	intestine
41	chr6:149268800-149269400	Enhancers	Fetal Lung	lung
42	chr6:149268800-149269400	Enhancers	Fetal Stomach	stomach
43	chr6:149268800-149269400	Enhancers	Rectal Smooth Muscle	rectum
44	chr6:149268800-149269400	Enhancers	Right Atrium	heart
45	chr6:149268800-149269400	Enhancers	NHDF-Ad	bronchial
46	chr6:149268800-149269600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:149268800-149269600	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:149268800-149269600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr6:149268800-149269600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:149268800-149269600	Enhancers	Brain Hippocampus Middle	brain

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