Variant report

Variant	rs4498397
Chromosome Location	chr6:121542193-121542194
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10457412	0.82[AMR][1000 genomes]
rs11153995	0.84[CEU][hapmap]
rs11154003	0.87[EUR][1000 genomes]
rs11154014	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs12209087	0.83[ASN][1000 genomes]
rs12717175	0.80[YRI][hapmap]
rs1273715	0.84[CEU][hapmap]
rs1273721	0.83[CEU][hapmap]
rs1273722	0.83[CEU][hapmap]
rs1273725	0.83[CEU][hapmap]
rs1273726	0.81[CEU][hapmap]
rs1273728	0.85[CEU][hapmap]
rs1273733	0.84[CEU][hapmap]
rs1273745	0.83[CEU][hapmap]
rs1273746	0.85[CEU][hapmap]
rs1273748	0.84[CEU][hapmap]
rs1290678	0.82[AMR][1000 genomes]
rs1343072	0.87[EUR][1000 genomes]
rs1392863	0.83[AMR][1000 genomes]
rs1604279	0.86[EUR][1000 genomes]
rs17083165	0.81[CEU][hapmap]
rs17083190	0.84[CEU][hapmap]
rs1776817	0.83[CEU][hapmap]
rs1846865	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1846866	0.84[CEU][hapmap]
rs1891646	0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1995313	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2038833	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2088832	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2102102	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2133992	0.84[CEU][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2133994	0.84[CEU][hapmap]
rs218867	0.85[CEU][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes]
rs2202065	0.81[JPT][hapmap]
rs2455056	0.83[CEU][hapmap]
rs2797955	0.83[CEU][hapmap]
rs2892766	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2995680	0.83[CEU][hapmap]
rs35583988	0.85[EUR][1000 genomes]
rs35983239	0.84[EUR][1000 genomes]
rs391331	0.89[AMR][1000 genomes]
rs3956400	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4027128	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs407586	0.85[CEU][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes]
rs4395765	0.83[ASN][1000 genomes]
rs4412234	0.86[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4412244	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs443149	0.85[CEU][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes]
rs4461766	0.86[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4476866	0.84[CEU][hapmap]
rs4601176	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4946547	0.84[CEU][hapmap]
rs4946565	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs57260767	0.81[EUR][1000 genomes]
rs624687	0.86[AMR][1000 genomes]
rs6569197	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6903298	0.80[ASN][1000 genomes]
rs6911380	0.81[ASN][1000 genomes]
rs6916050	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6919890	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6926502	0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6928060	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6936507	0.86[EUR][1000 genomes]
rs6941235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7450022	0.84[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7450632	0.85[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs767743	0.83[CEU][hapmap]
rs7768058	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7771881	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs905024	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs905025	0.84[CEU][hapmap]
rs9320791	0.83[AMR][1000 genomes]
rs9320793	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs9320794	0.83[CEU][hapmap];0.89[EUR][1000 genomes]
rs9320799	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9320801	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9320805	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9320806	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs9320807	0.94[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs9320808	0.94[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs9372640	0.84[CEU][hapmap]
rs9372644	0.83[EUR][1000 genomes]
rs9372645	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9372646	0.84[CEU][hapmap]
rs9372647	0.86[EUR][1000 genomes]
rs9375004	0.89[AMR][1000 genomes]
rs9375008	0.86[EUR][1000 genomes]
rs9375009	0.87[EUR][1000 genomes]
rs9375011	0.83[CEU][hapmap];0.86[EUR][1000 genomes]
rs9375012	0.84[CEU][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9375013	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9375022	0.86[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9385187	0.84[CEU][hapmap]
rs9385193	0.84[ASN][1000 genomes]
rs9387920	0.86[CEU][hapmap];0.89[AMR][1000 genomes]
rs9387924	0.85[CEU][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes]
rs9387926	0.87[EUR][1000 genomes]
rs9387928	0.86[EUR][1000 genomes]
rs9387929	0.92[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9387930	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9387939	0.94[CHB][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9387942	0.85[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9398622	0.85[CEU][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes]
rs9398623	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs9398625	0.84[CEU][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9401367	0.88[JPT][hapmap]
rs9401368	0.89[AMR][1000 genomes]
rs9401370	0.81[JPT][hapmap]
rs9401372	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9401374	0.84[CEU][hapmap]
rs9401375	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs9401376	0.86[EUR][1000 genomes]
rs9401377	0.87[EUR][1000 genomes]
rs9401378	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9401379	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs9401380	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9401382	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9401387	0.83[ASN][1000 genomes]
rs9401388	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9482118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9482119	0.86[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9490184	0.83[ASN][1000 genomes]
rs975679	0.83[CEU][hapmap]
rs976611	0.86[CEU][hapmap]
rs9885676	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv604572	chr6:121465011-121544876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121487400-121556000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:121509600-121575400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:121515600-121544200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:121516000-121560200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:121528400-121551800	Weak transcription	Psoas Muscle	Psoas
6	chr6:121533000-121566800	Weak transcription	Stomach Mucosa	stomach
7	chr6:121535000-121569200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:121536200-121567200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:121536400-121544200	Weak transcription	Osteobl	bone
10	chr6:121536400-121556200	Weak transcription	Primary B cells from cord blood	blood
11	chr6:121536400-121556200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr6:121536600-121544000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:121536600-121545000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:121536600-121556000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:121536600-121556000	Weak transcription	Pancreas	Pancrea
16	chr6:121536600-121556400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:121536600-121556600	Weak transcription	Left Ventricle	heart
18	chr6:121536600-121558400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:121536600-121566000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:121536600-121568200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:121536600-121585400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:121536800-121556000	Weak transcription	Fetal Stomach	stomach
23	chr6:121536800-121556600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:121536800-121565600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr6:121536800-121566000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:121536800-121566000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:121536800-121566000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:121536800-121584400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:121537000-121584600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:121537200-121556000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:121537200-121556200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:121537200-121556200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:121537200-121562400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:121537400-121544200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr6:121537400-121556200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:121537400-121556600	Weak transcription	Right Ventricle	heart
37	chr6:121537400-121567800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:121538200-121565800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:121538200-121567000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr6:121538400-121544000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:121538600-121544000	Weak transcription	HSMM	muscle
42	chr6:121538600-121556000	Weak transcription	Fetal Intestine Small	intestine
43	chr6:121538800-121542600	Weak transcription	Dnd41	blood
44	chr6:121538800-121546200	Weak transcription	Fetal Brain Male	brain
45	chr6:121539200-121567600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr6:121539400-121562200	Weak transcription	Fetal Kidney	kidney
47	chr6:121539400-121563200	Weak transcription	Brain Substantia Nigra	brain
48	chr6:121540200-121542400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:121540200-121555800	Weak transcription	Fetal Intestine Large	intestine
50	chr6:121540400-121555800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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