Variant report

Variant	rs6685149
Chromosome Location	chr1:215760966-215760967
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:215757454..215759461-chr1:215759598..215762560,2	MCF-7	breast:
2	chr1:215750502..215754220-chr1:215760375..215763243,3	K562	blood:
3	chr1:215755182..215757804-chr1:215759446..215762831,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1027820	1.00[AMR][1000 genomes]
rs1557172	0.82[YRI][hapmap]
rs1819740	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2102370	1.00[AMR][1000 genomes]
rs2797240	1.00[MEX][hapmap]
rs2797392	1.00[MEX][hapmap]
rs3767258	0.90[AFR][1000 genomes]
rs57397989	0.90[AFR][1000 genomes]
rs58759277	0.84[AFR][1000 genomes]
rs59417960	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59635576	0.90[AFR][1000 genomes]
rs60533889	0.86[AFR][1000 genomes]
rs61346484	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6540901	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs6669126	1.00[AMR][1000 genomes]
rs6669520	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673234	1.00[AMR][1000 genomes]
rs6674311	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6676725	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs6682584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6684615	1.00[AMR][1000 genomes]
rs6684799	1.00[AMR][1000 genomes]
rs6685832	1.00[AMR][1000 genomes]
rs6689680	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.82[YRI][hapmap]
rs6697600	1.00[AMR][1000 genomes]
rs73083432	1.00[AMR][1000 genomes]
rs73085423	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085425	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085441	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085453	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73085455	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73087423	0.88[AFR][1000 genomes]
rs73087440	0.83[AFR][1000 genomes]
rs7511859	1.00[AMR][1000 genomes]
rs7522198	0.84[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7522720	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531580	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7545425	1.00[YRI][hapmap];0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215741800-215786200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:215741800-215809800	Weak transcription	Colonic Mucosa	Colon
3	chr1:215742000-215786400	Weak transcription	Thymus	Thymus
4	chr1:215742200-215767600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:215742200-215786400	Weak transcription	Primary T cells from cord blood	blood
6	chr1:215743000-215772400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:215743200-215785800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:215744200-215767400	Weak transcription	Fetal Brain Male	brain
9	chr1:215744400-215767600	Weak transcription	NHLF	lung
10	chr1:215746600-215768000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:215748000-215764000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:215749400-215762600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:215750000-215763200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:215750000-215767600	Weak transcription	Right Ventricle	heart
15	chr1:215750000-215772800	Weak transcription	Psoas Muscle	Psoas
16	chr1:215750000-215778600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:215750000-215786200	Weak transcription	Small Intestine	intestine
18	chr1:215750000-215805000	Weak transcription	Lung	lung
19	chr1:215750200-215766200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr1:215750200-215785800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:215750200-215786200	Weak transcription	Pancreas	Pancrea
22	chr1:215750200-215790400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:215750200-215795400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:215750200-215796000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:215750200-215804400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:215750200-215809200	Weak transcription	Gastric	stomach
27	chr1:215750400-215765400	Weak transcription	Brain Angular Gyrus	brain
28	chr1:215751800-215768600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:215752800-215781400	Weak transcription	Hela-S3	cervix
30	chr1:215753000-215767600	Weak transcription	HSMMtube	muscle
31	chr1:215753200-215792200	Weak transcription	Aorta	Aorta
32	chr1:215753400-215764800	Weak transcription	Esophagus	oesophagus
33	chr1:215753400-215772600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:215753400-215778600	Weak transcription	Fetal Thymus	thymus
35	chr1:215754000-215767600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:215754000-215767600	Weak transcription	HSMM	muscle
37	chr1:215754600-215762400	Weak transcription	Fetal Intestine Small	intestine
38	chr1:215754600-215762400	Weak transcription	Fetal Stomach	stomach
39	chr1:215755400-215767600	Weak transcription	Brain Anterior Caudate	brain
40	chr1:215755400-215768800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:215755600-215762000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:215755800-215763000	Weak transcription	NHDF-Ad	bronchial
43	chr1:215755800-215764800	Weak transcription	NH-A	brain
44	chr1:215755800-215767600	Weak transcription	Osteobl	bone
45	chr1:215755800-215776200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:215755800-215804800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:215756000-215770600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr1:215756200-215769200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr1:215756600-215763200	Strong transcription	Fetal Intestine Large	intestine
50	chr1:215757000-215763600	Strong transcription	Duodenum Mucosa	Duodenum

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