Variant report

Variant	rs6852373
Chromosome Location	chr4:89925969-89925970
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:89923434..89926006-chr4:89929564..89931066,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10004888	0.90[ASN][1000 genomes]
rs10006121	0.90[ASN][1000 genomes]
rs10009019	0.90[ASN][1000 genomes]
rs10019681	0.81[CEU][hapmap]
rs10025142	0.85[ASN][1000 genomes]
rs10028596	0.90[ASN][1000 genomes]
rs10030965	0.90[ASN][1000 genomes]
rs10033484	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs10470937	0.90[ASN][1000 genomes]
rs11097206	0.88[ASN][1000 genomes]
rs11097208	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11737016	0.89[ASN][1000 genomes]
rs11737182	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11935610	0.87[ASN][1000 genomes]
rs12512799	0.91[ASN][1000 genomes]
rs12640018	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12645240	0.88[ASN][1000 genomes]
rs13138280	0.91[JPT][hapmap]
rs13148188	0.95[ASN][1000 genomes]
rs1398940	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1458557	0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs16996143	0.86[CHB][hapmap];0.96[JPT][hapmap];0.89[ASN][1000 genomes]
rs17015027	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17015052	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1708668	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1708669	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1708670	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1708681	0.96[ASN][1000 genomes]
rs1795722	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1795727	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1795729	0.99[ASN][1000 genomes]
rs1795734	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1795738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1849597	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1903006	0.89[ASN][1000 genomes]
rs1903007	0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1921679	0.81[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1921683	0.91[ASN][1000 genomes]
rs1921684	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1961979	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2085601	0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2090031	0.88[ASN][1000 genomes]
rs2178583	0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2178584	0.81[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2178585	0.81[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2464514	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609275	0.81[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2670623	0.81[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2704571	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2704573	0.86[CHB][hapmap];0.96[JPT][hapmap];0.88[ASN][1000 genomes]
rs2704574	0.89[ASN][1000 genomes]
rs2704576	0.89[ASN][1000 genomes]
rs2704577	0.81[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2704596	0.87[ASN][1000 genomes]
rs28540701	0.90[ASN][1000 genomes]
rs28600923	0.94[ASN][1000 genomes]
rs2869969	0.85[ASN][1000 genomes]
rs2869971	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2869972	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2869973	0.91[ASN][1000 genomes]
rs28712360	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2904261	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34749134	0.86[ASN][1000 genomes]
rs34869341	0.88[ASN][1000 genomes]
rs35232147	0.90[ASN][1000 genomes]
rs35441198	0.92[ASN][1000 genomes]
rs4285052	0.86[ASN][1000 genomes]
rs4437212	0.84[ASN][1000 genomes]
rs4450885	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4507326	0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4642211	0.91[JPT][hapmap]
rs4693976	0.81[CEU][hapmap]
rs4693981	0.94[ASN][1000 genomes]
rs60618725	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62306363	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62306364	0.86[ASN][1000 genomes]
rs62306390	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62306391	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6532091	0.86[ASN][1000 genomes]
rs6815703	0.90[ASN][1000 genomes]
rs6819725	0.92[ASN][1000 genomes]
rs6821678	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs6827857	0.92[ASN][1000 genomes]
rs6834787	0.92[ASN][1000 genomes]
rs6835019	0.87[CEU][hapmap]
rs6844655	0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6852947	0.89[ASN][1000 genomes]
rs6853480	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs72877642	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7654714	0.84[ASN][1000 genomes]
rs7656238	0.81[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7659904	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7660314	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7668636	0.81[CEU][hapmap]
rs7680864	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7686954	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7692455	0.91[ASN][1000 genomes]
rs7697075	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7697900	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7697921	0.91[ASN][1000 genomes]
rs9307053	0.88[ASN][1000 genomes]
rs9307054	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs9307055	0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs9307060	0.92[ASN][1000 genomes]
rs9307061	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9991237	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9991800	0.88[ASN][1000 genomes]
rs9995465	0.86[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	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv998651	chr4:89800245-89933445	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv537175	chr4:89800245-89933445	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv461577	chr4:89904124-89986326	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv594807	chr4:89904124-89986326	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89878400-89927600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:89896800-89934800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:89903000-89957200	Weak transcription	HSMM	muscle
4	chr4:89903400-89936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:89904200-89927600	Weak transcription	Pancreas	Pancrea
6	chr4:89906600-89927400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:89907800-89927400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:89908400-89926600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:89908800-89927400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:89909400-89926400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:89909800-89931200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:89910400-89927600	Weak transcription	Ovary	ovary
13	chr4:89911400-89930400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr4:89911600-89926400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:89911600-89926600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:89912200-89926200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:89912200-89926400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:89912200-89935800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:89912200-89943800	Weak transcription	Psoas Muscle	Psoas
20	chr4:89912400-89927600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:89913400-89930800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:89913400-89944000	Weak transcription	Gastric	stomach
23	chr4:89915800-89927200	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:89917200-89927400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:89919400-89926600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:89920000-89927200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:89920400-89937000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:89921000-89930000	Weak transcription	Liver	Liver
29	chr4:89921000-89950600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr4:89922000-89927600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:89922400-89936000	Weak transcription	Adipose Nuclei	Adipose
32	chr4:89922600-89926600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:89922600-89927600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:89922600-89932600	Weak transcription	NHDF-Ad	bronchial
35	chr4:89922600-89935000	Weak transcription	Placenta	Placenta
36	chr4:89922600-89936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:89922600-89949800	Weak transcription	HMEC	breast
38	chr4:89922800-89927600	Weak transcription	HepG2	liver
39	chr4:89922800-89931800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:89922800-89935800	Weak transcription	HUVEC	blood vessel
41	chr4:89922800-89945600	Weak transcription	A549	lung
42	chr4:89923000-89927400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:89923000-89932200	Weak transcription	Osteobl	bone
44	chr4:89923000-89935000	Weak transcription	Fetal Kidney	kidney
45	chr4:89923400-89939400	Weak transcription	Primary T cells from cord blood	blood
46	chr4:89923600-89927600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:89923600-89927600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr4:89923600-89930800	Weak transcription	Small Intestine	intestine
49	chr4:89923600-89945600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:89923800-89926200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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