Variant report

Variant	rs17080331
Chromosome Location	chr6:151121649-151121650
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	chr6:151121455..151124802-chr6:151125509..151127988,3	K562	blood:
2	chr6:151121455..151123366-chr6:151125509..151127988,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11961263	1.00[CHB][hapmap]
rs1466725	1.00[CEU][hapmap]
rs2002561	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4869948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901976	1.00[CEU][hapmap]
rs6903862	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908190	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921992	1.00[CEU][hapmap]
rs6922805	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923310	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6923505	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924094	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924455	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9478766	1.00[CEU][hapmap]
rs998307	0.86[CHB][hapmap]

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	nsv1030326	chr6:150967665-151641372	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019919	chr6:151028969-151161789	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv538474	chr6:151028969-151161789	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151091000-151125800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr6:151097600-151134800	Weak transcription	HUVEC	blood vessel
3	chr6:151098400-151130400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:151098800-151130000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:151106000-151130400	Weak transcription	Right Ventricle	heart
6	chr6:151107600-151130200	Weak transcription	Gastric	stomach
7	chr6:151108400-151133800	Weak transcription	HMEC	breast
8	chr6:151109200-151126000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:151109600-151132200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:151109800-151163800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:151110000-151122000	Weak transcription	Brain Substantia Nigra	brain
12	chr6:151110000-151130000	Weak transcription	Left Ventricle	heart
13	chr6:151110000-151130000	Weak transcription	Ovary	ovary
14	chr6:151110000-151130200	Weak transcription	Esophagus	oesophagus
15	chr6:151110200-151126400	Weak transcription	Fetal Kidney	kidney
16	chr6:151110200-151130200	Weak transcription	Brain Anterior Caudate	brain
17	chr6:151110200-151130400	Weak transcription	Aorta	Aorta
18	chr6:151110600-151178000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:151111200-151161400	Weak transcription	Small Intestine	intestine
20	chr6:151115000-151151800	Weak transcription	Primary T cells from cord blood	blood
21	chr6:151116400-151134400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr6:151116600-151122800	Strong transcription	Thymus	Thymus
23	chr6:151116600-151130000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:151116800-151126400	Weak transcription	Fetal Intestine Small	intestine
25	chr6:151116800-151130400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:151116800-151132200	Strong transcription	Fetal Thymus	thymus
27	chr6:151116800-151152000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:151117200-151156200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:151117400-151123200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:151117600-151130400	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:151118400-151125800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:151118600-151124200	Weak transcription	Liver	Liver
33	chr6:151118600-151125800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:151118800-151125800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:151118800-151126600	Weak transcription	Spleen	Spleen
36	chr6:151119600-151133000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:151119800-151121800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr6:151120000-151130200	Weak transcription	Brain Angular Gyrus	brain
39	chr6:151120200-151128600	Strong transcription	Primary B cells from cord blood	blood
40	chr6:151120400-151122000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:151120400-151122200	Enhancers	Adipose Nuclei	Adipose
42	chr6:151120400-151122400	Enhancers	NHDF-Ad	bronchial
43	chr6:151120400-151122800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:151120400-151128200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:151120400-151151800	Weak transcription	Colonic Mucosa	Colon
46	chr6:151120600-151121800	Genic enhancers	Placenta	Placenta
47	chr6:151120600-151122000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr6:151121000-151121800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:151121000-151123000	Enhancers	Fetal Muscle Leg	muscle
50	chr6:151121000-151123000	Enhancers	Fetal Stomach	stomach

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