Variant report

Variant	rs4971183
Chromosome Location	chr1:157998950-157998951
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	chr1:157998908..158001801-chr1:158002681..158007266,4	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10430456	0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11264878	1.00[JPT][hapmap];0.87[MKK][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12025305	0.88[ASN][1000 genomes]
rs12037357	0.97[GIH][hapmap]
rs12039337	0.97[GIH][hapmap]
rs12118340	0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12118455	0.88[ASN][1000 genomes]
rs12134949	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12568166	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16839617	0.86[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap]
rs16839627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16839630	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16839636	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1972216	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs1980765	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4445460	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs4971174	0.82[CEU][hapmap]
rs4971177	0.82[CEU][hapmap];0.90[GIH][hapmap]
rs4971179	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4971180	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4971181	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4971182	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4971184	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4971185	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs5018263	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs61819730	0.90[AFR][1000 genomes]
rs6661149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661160	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664509	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665788	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6665898	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6666443	0.82[CEU][hapmap]
rs6680191	0.82[CEU][hapmap];0.83[YRI][hapmap]
rs6690504	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6692314	0.88[ASN][1000 genomes]
rs6699860	0.86[ASN][1000 genomes]
rs7537784	0.82[CEU][hapmap];0.97[GIH][hapmap]
rs7548850	1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[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	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
2	chr1:157989400-158007400	Weak transcription	Gastric	stomach
3	chr1:157991400-158000400	Weak transcription	Fetal Intestine Large	intestine
4	chr1:157991800-158002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:157991800-158007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:157992000-157999200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:157992800-158000600	Weak transcription	Thymus	Thymus
8	chr1:157993000-158007400	Weak transcription	HSMMtube	muscle
9	chr1:157993000-158007600	Weak transcription	Esophagus	oesophagus
10	chr1:157993200-158007400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:157994400-157999600	Enhancers	A549	lung
12	chr1:157995000-158007800	Weak transcription	Brain Germinal Matrix	brain
13	chr1:157995200-158004200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:157995400-157999400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:157995400-158007600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:157995600-158000000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:157995600-158004400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:157995800-158000200	Weak transcription	Fetal Intestine Small	intestine
19	chr1:157995800-158000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:157995800-158001000	Weak transcription	Fetal Brain Female	brain
21	chr1:157995800-158005600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:157995800-158007400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:157996000-158000400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:157996000-158001000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:157996000-158007400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr1:157996000-158007400	Weak transcription	Lung	lung
27	chr1:157996200-158000000	Weak transcription	NHDF-Ad	bronchial
28	chr1:157996200-158000600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr1:157996200-158000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:157996200-158006800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:157996200-158007600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:157996200-158007600	Weak transcription	Spleen	Spleen
33	chr1:157996400-158000400	Weak transcription	Aorta	Aorta
34	chr1:157996400-158001000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:157996400-158005600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:157996400-158007400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:157996600-158000600	Weak transcription	Fetal Kidney	kidney
38	chr1:157996800-158000000	Weak transcription	Placenta	Placenta
39	chr1:157996800-158000400	Weak transcription	Fetal Lung	lung
40	chr1:157996800-158001400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:157997000-158000200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:157997000-158001800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:157997200-158000400	Genic enhancers	NHEK	skin
44	chr1:157997200-158000600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:157997200-158005600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr1:157997400-158000600	Weak transcription	Fetal Muscle Leg	muscle
47	chr1:157997600-157999200	Enhancers	Ovary	ovary
48	chr1:157997600-158000000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:157997600-158000200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:157997600-158000400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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