Variant report

Variant	rs71634108
Chromosome Location	chr1:184423880-184423881
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	chr1:184416154..184418161-chr1:184421571..184424535,3	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10911582	1.00[ASN][1000 genomes]
rs12082456	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083933	1.00[ASN][1000 genomes]
rs12723932	1.00[ASN][1000 genomes]
rs12726204	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727991	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12735278	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12735902	1.00[ASN][1000 genomes]
rs12737779	0.92[EUR][1000 genomes]
rs12743066	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12743488	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12746499	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12754494	1.00[ASN][1000 genomes]
rs12754557	1.00[ASN][1000 genomes]
rs12756084	0.92[EUR][1000 genomes]
rs12756319	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374607	0.94[EUR][1000 genomes]
rs13374609	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547608	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856561	1.00[ASN][1000 genomes]
rs1970391	1.00[ASN][1000 genomes]
rs2180075	1.00[ASN][1000 genomes]
rs34072105	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34282348	0.96[EUR][1000 genomes]
rs34312759	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418556	1.00[ASN][1000 genomes]
rs34427261	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34579903	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34591137	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34712320	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34946851	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34959231	1.00[ASN][1000 genomes]
rs35021091	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35040136	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35350002	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35414247	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35430213	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901887	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35964209	0.92[EUR][1000 genomes]
rs3886022	1.00[ASN][1000 genomes]
rs4275415	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332324	1.00[ASN][1000 genomes]
rs4354508	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4390140	1.00[ASN][1000 genomes]
rs4466608	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650665	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650668	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650669	1.00[ASN][1000 genomes]
rs4651204	1.00[ASN][1000 genomes]
rs4651207	0.94[EUR][1000 genomes]
rs4651212	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651222	1.00[ASN][1000 genomes]
rs57978136	1.00[ASN][1000 genomes]
rs59079733	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659461	0.82[EUR][1000 genomes]
rs66916459	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67811250	1.00[ASN][1000 genomes]
rs68054616	1.00[ASN][1000 genomes]
rs71634105	1.00[ASN][1000 genomes]
rs71634106	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71634109	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74131654	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74131659	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531736	1.00[ASN][1000 genomes]
rs9970629	0.94[EUR][1000 genomes];1.00[ASN][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	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
2	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:184413000-184426600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:184413200-184424800	Weak transcription	Fetal Heart	heart
6	chr1:184413200-184430000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:184419200-184438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:184419400-184426000	Weak transcription	HMEC	breast
9	chr1:184419600-184426600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:184419600-184426600	Weak transcription	Right Atrium	heart
11	chr1:184419600-184426800	Weak transcription	NHEK	skin
12	chr1:184419600-184428800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:184419600-184428800	Weak transcription	Right Ventricle	heart
14	chr1:184419600-184432600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:184419800-184426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:184421400-184424200	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:184421400-184427400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:184421400-184433000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:184421600-184425800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:184421800-184426800	Weak transcription	Pancreas	Pancrea
21	chr1:184422000-184427800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:184422400-184426600	Weak transcription	Esophagus	oesophagus
23	chr1:184422600-184424000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:184422600-184426600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:184422600-184426800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:184422800-184426000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:184423000-184424400	Weak transcription	Small Intestine	intestine
28	chr1:184423000-184428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:184423000-184431200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:184423200-184426400	Weak transcription	Fetal Lung	lung
31	chr1:184423200-184426800	Weak transcription	Stomach Mucosa	stomach
32	chr1:184423200-184427400	Enhancers	Psoas Muscle	Psoas
33	chr1:184423600-184424000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:184423600-184424000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:184423600-184424000	Enhancers	Left Ventricle	heart
36	chr1:184423600-184424000	Enhancers	Lung	lung
37	chr1:184423600-184424000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr1:184423600-184424400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:184423600-184424600	Enhancers	NHLF	lung
40	chr1:184423600-184425400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr1:184423600-184425400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:184423800-184424400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:184423800-184424400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:184423800-184424400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:184423800-184424400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:184423800-184424800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr1:184423800-184425400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:184423800-184426600	Weak transcription	Fetal Stomach	stomach
49	chr1:184423800-184426800	Weak transcription	Rectal Mucosa Donor 31	rectum

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