Variant report

Variant	rs9385895
Chromosome Location	chr6:140400855-140400856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr6:140398903-140401059	SK-N-SH	brain:	n/a	chr6:140399809-140399819 chr6:140399088-140399095
2	POLR2A	chr6:140400514-140400882	Gliobla	brain:	n/a	n/a
3	POLR2A	chr6:140400331-140401077	ProgFib	skin:	n/a	n/a
4	GATA3	chr6:140398904-140400878	SK-N-SH	brain:	n/a	chr6:140400561-140400577 chr6:140400563-140400575 chr6:140400565-140400574
5	GATA3	chr6:140399110-140400947	SK-N-SH	brain:	n/a	chr6:140400561-140400577 chr6:140400563-140400575 chr6:140400565-140400574

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:140398877..140401042-chr6:140404023..140406450,2	K562	blood:
2	chr6:139696210..139697933-chr6:140398822..140400886,2	K562	blood:

Variant related genes	Relation type
ENSG00000236013	TF binding region
ENSG00000236013	Chromatin interaction

Extended variants
information (count: 140 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10434888	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10872525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1119397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12174980	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12175776	0.83[ASN][1000 genomes]
rs12660474	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12660560	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12662046	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12662151	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12662747	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12663480	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12664312	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12665797	0.81[ASN][1000 genomes]
rs13191189	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13204837	1.00[CEU][hapmap]
rs13207048	0.84[ASN][1000 genomes]
rs13215736	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1324130	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1416289	0.87[CEU][hapmap]
rs1496110	0.81[ASN][1000 genomes]
rs1496112	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1496113	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1519592	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1587171	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1603348	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1603349	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17069736	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17069768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17069852	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17069854	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2020197	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34358600	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34753441	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34984534	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35332737	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35392782	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35461592	0.80[AFR][1000 genomes]
rs35465283	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36074095	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36126113	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4637665	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56044741	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62431097	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62431100	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62431101	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs66460448	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71562538	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs724061	0.90[CEU][hapmap]
rs72973906	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7758187	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7761894	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7763294	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs9321765	0.81[ASN][1000 genomes]
rs9373256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9373258	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9373259	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9373260	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9373261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9373262	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9373266	0.81[ASN][1000 genomes]
rs9376485	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9376493	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9376494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9376495	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9376496	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9376497	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9376498	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9376500	0.85[EUR][1000 genomes]
rs9376501	0.82[EUR][1000 genomes]
rs9376502	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9376503	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9376504	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9376506	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9385896	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9385897	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9385899	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9385900	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9385901	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9385902	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9385903	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9385906	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9389733	0.95[CEU][hapmap]
rs9389741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389743	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389744	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9389745	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9389746	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9389748	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9389749	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389750	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9389751	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9389753	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9389754	0.84[ASN][1000 genomes]
rs9389755	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9389757	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9389758	0.80[AFR][1000 genomes]
rs9389760	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9389763	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9389767	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9389768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9389772	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9389773	0.82[EUR][1000 genomes]
rs9389774	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9389776	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9389777	0.84[ASN][1000 genomes]
rs9389780	0.81[ASN][1000 genomes]
rs9389781	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9389789	0.82[AFR][1000 genomes]
rs9399298	0.95[CEU][hapmap]
rs9399303	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9399304	0.95[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9399305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399306	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9399307	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9399308	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9399310	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9403134	0.95[CEU][hapmap]
rs9403135	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9403138	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9403139	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9403143	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9403145	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9403146	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9403147	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9403148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9403149	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9403150	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9403151	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9403153	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9403155	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9403156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9403157	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9403159	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9403165	0.82[ASN][1000 genomes]
rs9403168	0.81[AFR][1000 genomes]
rs9484347	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1019508	chr6:140317472-140434466	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1022987	chr6:140344229-140463916	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140394400-140403800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:140398400-140401800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:140398800-140401000	Enhancers	Colon Smooth Muscle	Colon
4	chr6:140398800-140401800	Enhancers	Fetal Heart	heart
5	chr6:140399000-140401000	Enhancers	NH-A	brain
6	chr6:140399000-140401800	Enhancers	Fetal Lung	lung
7	chr6:140399200-140401000	Enhancers	Adipose Nuclei	Adipose
8	chr6:140399400-140404000	Weak transcription	Fetal Intestine Small	intestine
9	chr6:140399600-140401200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:140399800-140401000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr6:140399800-140401200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:140399800-140401600	Enhancers	NHDF-Ad	bronchial
13	chr6:140400000-140401000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:140400000-140401000	Active TSS	Right Atrium	heart
15	chr6:140400000-140401000	Enhancers	Stomach Smooth Muscle	stomach
16	chr6:140400000-140401200	Enhancers	NHLF	lung
17	chr6:140400000-140401400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr6:140400200-140401000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr6:140400600-140401000	Flanking Active TSS	Ovary	ovary
20	chr6:140400600-140401800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:140400600-140403600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:140400600-140403800	Weak transcription	HMEC	breast
23	chr6:140400600-140404000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:140400600-140404200	Weak transcription	Placenta	Placenta
25	chr6:140400800-140401200	Enhancers	Osteobl	bone
26	chr6:140400800-140401800	Active TSS	Right Ventricle	heart
27	chr6:140400800-140403000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr6:140400800-140404000	Weak transcription	Aorta	Aorta
29	chr6:140400800-140404000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:140400800-140404000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:140400800-140404200	Weak transcription	Left Ventricle	heart

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