Variant report

Variant	rs6687947
Chromosome Location	chr1:225812016-225812017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225811629..225814682-chr1:225837317..225840214,3	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11801322	0.97[AFR][1000 genomes]
rs11808089	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28617210	0.91[AFR][1000 genomes]
rs55865602	0.84[AFR][1000 genomes]
rs55893672	0.85[AFR][1000 genomes]
rs57616580	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58221350	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58384340	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59481688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60271197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60588592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6426081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666276	0.93[ASW][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687755	0.90[AFR][1000 genomes]
rs6696683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698989	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702446	1.00[ASN][1000 genomes]
rs73124025	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125705	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125706	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73125707	0.84[AFR][1000 genomes]
rs7515673	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531033	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555097	0.93[AMR][1000 genomes];1.00[ASN][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	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:225780800-225815400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
4	chr1:225793600-225813200	Weak transcription	Left Ventricle	heart
5	chr1:225793600-225813800	Weak transcription	NH-A	brain
6	chr1:225794600-225813200	Weak transcription	Lung	lung
7	chr1:225795600-225813200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:225795600-225813200	Weak transcription	Psoas Muscle	Psoas
9	chr1:225795600-225813800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:225796400-225812600	Weak transcription	Right Atrium	heart
11	chr1:225796600-225812200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:225797200-225815200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:225797400-225812600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:225797400-225814000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:225800200-225812600	Weak transcription	Gastric	stomach
16	chr1:225801600-225813600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:225802600-225813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:225802600-225813800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:225805800-225814800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:225806000-225812400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:225806000-225813400	Weak transcription	Aorta	Aorta
22	chr1:225806000-225813800	Weak transcription	Fetal Intestine Small	intestine
23	chr1:225806200-225812400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:225806200-225817600	Weak transcription	Fetal Brain Female	brain
25	chr1:225806400-225813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:225806400-225813800	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:225806400-225814200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:225806400-225814200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:225806400-225814400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:225806400-225815200	Weak transcription	Adipose Nuclei	Adipose
31	chr1:225806600-225812400	Weak transcription	Fetal Lung	lung
32	chr1:225806600-225812600	Weak transcription	Fetal Heart	heart
33	chr1:225806800-225812600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:225806800-225813200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:225806800-225813200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:225806800-225813600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:225806800-225813800	Weak transcription	Right Ventricle	heart
38	chr1:225806800-225814000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:225806800-225814000	Weak transcription	NHDF-Ad	bronchial
40	chr1:225806800-225814600	Weak transcription	A549	lung
41	chr1:225807000-225812600	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:225807000-225814000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:225807200-225813200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:225807200-225820400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr1:225808000-225812400	Weak transcription	Ovary	ovary
46	chr1:225808200-225818400	Weak transcription	Fetal Brain Male	brain
47	chr1:225809600-225813000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:225809600-225813600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:225809800-225837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:225810000-225812400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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