Variant report

Variant	rs4631655
Chromosome Location	chr1:184361316-184361317
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184358940..184362912-chr1:184372683..184376846,4	MCF-7	breast:
2	chr1:184353036..184355475-chr1:184360672..184362232,2	MCF-7	breast:
3	chr1:184361196..184362821-chr1:184427399..184430230,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10494580	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10737252	0.87[ASN][1000 genomes]
rs10752936	0.88[ASN][1000 genomes]
rs10752937	0.89[ASN][1000 genomes]
rs10797966	1.00[CEU][hapmap]
rs10911589	0.89[ASN][1000 genomes]
rs10911590	0.89[ASN][1000 genomes]
rs10911591	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10911592	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs10911594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11810399	1.00[CEU][hapmap]
rs12029316	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs12063636	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12070787	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12085285	0.87[ASN][1000 genomes]
rs12088034	0.87[ASN][1000 genomes]
rs12117332	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1535135	0.86[CEU][hapmap]
rs16823101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1884201	0.87[ASN][1000 genomes]
rs1884202	0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1884203	0.87[ASN][1000 genomes]
rs2207523	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4326589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4384189	0.88[ASN][1000 genomes]
rs4478778	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4512607	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs4991700	0.89[ASN][1000 genomes]
rs4991703	0.86[ASN][1000 genomes]
rs57073878	0.87[ASN][1000 genomes]
rs61502552	0.81[ASN][1000 genomes]
rs6424950	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6660217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6666696	1.00[CEU][hapmap]
rs6678278	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap]
rs6688074	0.87[ASN][1000 genomes]
rs6691784	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6692317	0.87[ASN][1000 genomes]
rs6696270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6700709	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs732959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7367466	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs7415961	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7512266	0.87[ASN][1000 genomes]
rs7538587	0.87[ASN][1000 genomes]
rs7548074	0.85[AMR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv3821	chr1:184319543-184365236	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:184357400-184362000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:184357400-184362200	Weak transcription	Gastric	stomach
3	chr1:184357600-184362000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:184357800-184362000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:184357800-184362200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:184358000-184362200	Weak transcription	Lung	lung
7	chr1:184358000-184373400	Weak transcription	Ovary	ovary
8	chr1:184358200-184372200	Weak transcription	Fetal Kidney	kidney
9	chr1:184358200-184374000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:184358400-184362000	Weak transcription	Esophagus	oesophagus
11	chr1:184358400-184362800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:184358400-184364400	Enhancers	HMEC	breast
13	chr1:184358400-184378200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:184358600-184363600	Weak transcription	Adipose Nuclei	Adipose
15	chr1:184358800-184361400	Weak transcription	Right Ventricle	heart
16	chr1:184359000-184368600	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:184359000-184382800	Weak transcription	Fetal Stomach	stomach
18	chr1:184359200-184361800	Weak transcription	Small Intestine	intestine
19	chr1:184359200-184363000	Weak transcription	Osteobl	bone
20	chr1:184359400-184362000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:184359400-184362200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:184359400-184362600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:184359400-184362800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:184359400-184377000	Weak transcription	Fetal Intestine Small	intestine
25	chr1:184359600-184361400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:184359600-184361400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:184359600-184361400	Weak transcription	Right Atrium	heart
28	chr1:184359600-184362400	Enhancers	NHEK	skin
29	chr1:184359600-184362800	Enhancers	Psoas Muscle	Psoas
30	chr1:184359600-184363400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:184359600-184363600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:184359600-184364600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:184359600-184365600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:184359600-184371800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:184359600-184377000	Weak transcription	A549	lung
36	chr1:184359600-184391200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:184359800-184366400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:184360200-184364200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:184360200-184364600	Weak transcription	Fetal Heart	heart
40	chr1:184360200-184364800	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:184360200-184371800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:184360400-184362600	Enhancers	Placenta	Placenta
43	chr1:184360400-184364600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:184360400-184364600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:184360600-184362200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:184360600-184362400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:184360600-184362400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr1:184360600-184363000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:184360600-184364800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:184360600-184365000	Enhancers	Skeletal Muscle Female	skeletal muscle

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