Variant report

Variant	rs4730072
Chromosome Location	chr7:104832260-104832261
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10227302	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10238507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10241415	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10244764	0.80[CHB][hapmap]
rs10245676	0.80[CHB][hapmap]
rs10266871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[ASN][1000 genomes]
rs10277120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10279486	0.80[CHB][hapmap]
rs10281422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10281886	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10487150	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs10953468	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs10953470	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10953474	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1121194	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1142	0.90[CEU][hapmap];0.80[CHB][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap]
rs1144	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs11760317	0.82[YRI][hapmap]
rs11765899	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1204056	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1204058	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1204060	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1204066	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1204077	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs1204078	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1204080	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12334245	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12534140	0.80[CHB][hapmap]
rs12668040	0.82[CHB][hapmap];0.93[JPT][hapmap]
rs12668097	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12671047	0.80[ASN][1000 genomes]
rs12705304	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12705306	0.85[EUR][1000 genomes]
rs12705308	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13226540	0.84[EUR][1000 genomes]
rs13235033	0.94[JPT][hapmap]
rs13238191	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13239067	0.83[EUR][1000 genomes]
rs17721873	0.93[JPT][hapmap]
rs2030776	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2040914	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2057883	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2057884	0.82[CEU][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes]
rs2192932	0.90[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap]
rs2237612	0.89[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2237613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2237617	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2240463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299304	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2299308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299319	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34387062	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35601145	0.82[EUR][1000 genomes]
rs35757884	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3779210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801278	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801281	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3801282	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3801285	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3801999	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4496901	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4727621	0.83[EUR][1000 genomes]
rs4730068	0.80[CHB][hapmap]
rs4730071	0.80[CHB][hapmap]
rs4730073	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730080	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4730081	0.83[EUR][1000 genomes]
rs4730082	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62484712	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6466053	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6466055	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6466056	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6466057	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6466064	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs66599006	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6943183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6948885	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs6950620	0.90[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs6962856	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6967587	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7357199	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7785197	0.80[CHB][hapmap]
rs7789569	0.85[ASN][1000 genomes]
rs7797912	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs7800928	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7801804	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7806591	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7811681	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs875568	0.80[CHB][hapmap]
rs917114	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs960437	0.80[CHB][hapmap]
rs9640686	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9649275	0.85[EUR][1000 genomes];0.84[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	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
2	chr7:104782800-104845600	Weak transcription	Spleen	Spleen
3	chr7:104806400-104838200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:104806600-104836800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:104806600-104842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:104809000-104836600	Weak transcription	HSMM	muscle
7	chr7:104809000-104838800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:104809600-104838000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:104809800-104838000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:104810200-104840600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:104814000-104839800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:104815600-104836600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:104820800-104833800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:104821000-104838400	Weak transcription	Fetal Lung	lung
15	chr7:104821600-104838400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:104822000-104836400	Weak transcription	A549	lung
17	chr7:104822000-104858800	Weak transcription	Gastric	stomach
18	chr7:104822800-104838200	Weak transcription	Primary T cells from cord blood	blood
19	chr7:104823600-104848600	Strong transcription	Dnd41	blood
20	chr7:104825000-104837800	Weak transcription	NH-A	brain
21	chr7:104827000-104839800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:104827400-104843400	Weak transcription	Psoas Muscle	Psoas
23	chr7:104827400-104850400	Weak transcription	Aorta	Aorta
24	chr7:104827800-104837600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:104827800-104838800	Weak transcription	K562	blood
26	chr7:104828000-104838000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:104828200-104840400	Weak transcription	Fetal Intestine Small	intestine
28	chr7:104828400-104836800	Enhancers	Brain Substantia Nigra	brain
29	chr7:104828600-104841000	Weak transcription	Fetal Intestine Large	intestine
30	chr7:104828600-104851000	Weak transcription	Stomach Mucosa	stomach
31	chr7:104828800-104835000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:104828800-104850000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:104829000-104833400	Weak transcription	GM12878-XiMat	blood
34	chr7:104829000-104833600	Weak transcription	HepG2	liver
35	chr7:104829000-104838200	Weak transcription	Fetal Stomach	stomach
36	chr7:104829000-104839200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:104829400-104837200	Weak transcription	NHLF	lung
38	chr7:104829600-104836400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:104829600-104836400	Weak transcription	HSMMtube	muscle
40	chr7:104829800-104833600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:104829800-104836600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:104829800-104838000	Weak transcription	NHDF-Ad	bronchial
43	chr7:104829800-104838600	Weak transcription	NHEK	skin
44	chr7:104829800-104843400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:104830000-104838600	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:104830000-104839400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:104830000-104842800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:104830000-104843000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:104830000-104843600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:104830400-104838800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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