Variant report

Variant	rs1871387
Chromosome Location	chr15:73475900-73475901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73475429..73477756-chr15:73487732..73490810,3	MCF-7	breast:
2	chr15:73475200..73477819-chr15:73479193..73482817,3	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11072404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12592184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1320241	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1479336	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1620369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1621216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1631796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1678246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16957640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2619257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619258	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2623989	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2623991	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2623992	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2623999	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2660822	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2660825	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2660828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2680336	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2680337	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2680342	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2680345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2680346	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28462360	0.89[ASN][1000 genomes]
rs4564531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4570800	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs471192	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4776627	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4776629	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs481579	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs484515	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs484544	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs489873	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs494493	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs497539	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs499098	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs513744	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs525587	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs529004	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs542259	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs549377	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs553238	0.93[EUR][1000 genomes]
rs55787640	0.90[EUR][1000 genomes]
rs561929	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56402186	0.86[ASN][1000 genomes]
rs56753901	0.91[ASN][1000 genomes]
rs58859253	0.87[EUR][1000 genomes]
rs59537860	0.87[EUR][1000 genomes]
rs60685845	0.91[ASN][1000 genomes]
rs6495056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs66466251	0.87[ASN][1000 genomes]
rs66881913	0.90[EUR][1000 genomes]
rs66931013	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67178516	0.93[ASN][1000 genomes]
rs67928653	0.91[ASN][1000 genomes]
rs67999476	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs68053508	0.95[EUR][1000 genomes]
rs68123262	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7163504	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7168651	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7168829	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7170328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7177002	0.91[ASN][1000 genomes]
rs7177629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs72739445	0.87[ASN][1000 genomes]
rs8033192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8037761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8039308	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8041219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9806271	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904338	chr15:73313691-73483718	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv517966	chr15:73349633-73488753	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv525462	chr15:73349633-73563495	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv904339	chr15:73375847-73483718	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv904340	chr15:73375847-73524629	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv904341	chr15:73390790-73483718	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv904342	chr15:73390790-73524629	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 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	chr15:73401400-73480200	Weak transcription	Right Ventricle	heart
2	chr15:73450000-73477400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:73454600-73483000	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:73455200-73500400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr15:73458600-73478000	Weak transcription	Colonic Mucosa	Colon
6	chr15:73459000-73482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:73466800-73482000	Weak transcription	Psoas Muscle	Psoas
8	chr15:73467800-73476800	Weak transcription	Fetal Brain Male	brain
9	chr15:73468600-73476200	Weak transcription	Small Intestine	intestine
10	chr15:73468600-73481200	Weak transcription	Lung	lung
11	chr15:73470000-73476400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr15:73470400-73477200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:73470800-73477400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr15:73470800-73481600	Weak transcription	Brain Angular Gyrus	brain
15	chr15:73471400-73478600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:73472000-73488400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:73472000-73496800	Weak transcription	Ovary	ovary
18	chr15:73472200-73504600	Weak transcription	Left Ventricle	heart
19	chr15:73473200-73476000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:73473400-73496400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr15:73473800-73476000	Strong transcription	Pancreas	Pancrea
22	chr15:73473800-73476200	Strong transcription	A549	lung
23	chr15:73473800-73476400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:73473800-73477200	Strong transcription	Fetal Stomach	stomach
25	chr15:73474200-73477400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:73474200-73478200	Strong transcription	Fetal Intestine Large	intestine
27	chr15:73474200-73479600	Weak transcription	Fetal Kidney	kidney
28	chr15:73474200-73482400	Weak transcription	Gastric	stomach
29	chr15:73474200-73482600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:73474200-73487800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:73474200-73488800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr15:73474200-73498200	Weak transcription	Liver	Liver
33	chr15:73474200-73523800	Weak transcription	Esophagus	oesophagus
34	chr15:73474400-73477800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr15:73474400-73478000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:73474400-73481800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:73474600-73476000	Strong transcription	Fetal Intestine Small	intestine
38	chr15:73474600-73478200	Strong transcription	Fetal Lung	lung
39	chr15:73474600-73488000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr15:73474600-73500600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:73474800-73478200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:73475000-73476000	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr15:73475000-73476000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr15:73475000-73476200	Enhancers	Brain Substantia Nigra	brain
45	chr15:73475000-73476200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr15:73475000-73476400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:73475000-73477200	Strong transcription	Fetal Muscle Leg	muscle
48	chr15:73475000-73477200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr15:73475200-73476000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:73475200-73476200	Enhancers	HUES64 Cell Line	embryonic stem cell

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