Variant report

Variant	rs13117949
Chromosome Location	chr4:102184885-102184886
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	chr4:102161014..102163978-chr4:102184167..102186813,2	MCF-7	breast:

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10004357	0.91[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10009468	0.87[EUR][1000 genomes]
rs10009785	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10016548	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10016669	0.95[CEU][hapmap];0.80[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10050344	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10516470	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11933861	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11934140	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11937437	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11941610	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11941991	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11944013	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11946537	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13103487	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13112866	0.80[CHB][hapmap]
rs13115148	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13115754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13116679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13117915	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13123962	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13137393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13151505	0.95[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1561721	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1837773	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2048072	0.81[JPT][hapmap]
rs2135611	0.85[CHB][hapmap]
rs2165505	0.95[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2583384	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2583405	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2583407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411074	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28478920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2850335	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2850336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2850338	0.95[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2850350	0.82[JPT][hapmap];0.85[YRI][hapmap]
rs2850351	0.80[JPT][hapmap]
rs2850359	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2850960	0.95[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2850961	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2850964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850969	0.80[JPT][hapmap]
rs2850971	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28513937	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28638776	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28698954	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35095772	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3789748	0.95[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3804381	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3804382	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804390	0.91[EUR][1000 genomes]
rs3804393	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3804403	0.95[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs3804404	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3804406	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3804407	0.95[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3804408	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3804409	0.95[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3804410	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3804416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3804417	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3804420	0.91[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3804421	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3811063	0.86[CHB][hapmap]
rs3827771	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3827773	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs4413408	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4461528	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4525978	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4699139	0.93[EUR][1000 genomes]
rs4699144	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699163	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60154086	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6532922	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6854591	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6854624	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs713454	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs713455	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs750032	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs755961	0.92[YRI][hapmap]
rs925028	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs958379	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs962385	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs962386	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978373	0.86[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9997767	0.91[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102174200-102186000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:102174400-102185800	Weak transcription	HMEC	breast
3	chr4:102177800-102185000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:102178000-102186600	Weak transcription	Brain Substantia Nigra	brain
5	chr4:102179000-102186800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:102180200-102185800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:102180600-102185400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:102180600-102185800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:102180600-102186200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:102180600-102186200	Weak transcription	Pancreas	Pancrea
11	chr4:102180600-102191000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:102180600-102192400	Weak transcription	Ovary	ovary
13	chr4:102180600-102197000	Weak transcription	Left Ventricle	heart
14	chr4:102180600-102203000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:102180800-102186200	Weak transcription	Gastric	stomach
16	chr4:102181200-102185800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:102181200-102186600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:102181200-102186800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:102181400-102186000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:102181600-102185000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr4:102181800-102185600	Weak transcription	NH-A	brain
22	chr4:102182000-102185000	Weak transcription	HUVEC	blood vessel
23	chr4:102182000-102185200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:102182200-102186000	Weak transcription	NHEK	skin
25	chr4:102182600-102186000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:102182600-102189800	Weak transcription	Colon Smooth Muscle	Colon
27	chr4:102182600-102192600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:102183000-102187600	Enhancers	Primary B cells from cord blood	blood
29	chr4:102183400-102186800	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:102183600-102186800	Enhancers	Stomach Mucosa	stomach
31	chr4:102183800-102185000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:102183800-102185000	Enhancers	Small Intestine	intestine
33	chr4:102183800-102185200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:102183800-102185200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:102183800-102185400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:102183800-102185400	Enhancers	Brain Anterior Caudate	brain
37	chr4:102183800-102185600	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:102183800-102186000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:102183800-102186000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr4:102183800-102188200	Enhancers	HepG2	liver
41	chr4:102184000-102186000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:102184000-102203200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:102184200-102185200	Enhancers	A549	lung
44	chr4:102184200-102185800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:102184200-102194600	Weak transcription	Psoas Muscle	Psoas
46	chr4:102184400-102185800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:102184400-102186000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:102184400-102199600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:102184600-102186000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:102184600-102188000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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