Variant report

Variant	rs6939345
Chromosome Location	chr6:34736134-34736135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34727618..34732287-chr6:34732833..34737608,8	K562	blood:
2	chr6:34604156..34606988-chr6:34735347..34736986,2	K562	blood:
3	chr6:34735510..34738429-chr6:34758057..34759743,2	MCF-7	breast:
4	chr6:34725434..34727125-chr6:34733306..34736189,2	MCF-7	breast:
5	chr6:34736115..34738612-chr6:34739380..34741719,2	MCF-7	breast:
6	chr6:34726193..34732287-chr6:34732320..34736678,10	K562	blood:

Variant related genes	Relation type
ENSG00000124562	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1125342	0.90[ASN][1000 genomes]
rs11756392	0.82[YRI][hapmap]
rs11970421	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs12173920	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs12176092	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs1555773	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs16894102	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16894945	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16894995	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16895362	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs16895467	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs2064253	0.81[EUR][1000 genomes]
rs2235572	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs2236392	0.96[ASN][1000 genomes]
rs2252551	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs2395607	0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs2744948	0.82[EUR][1000 genomes]
rs2744952	0.81[ASN][1000 genomes]
rs2744953	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2744963	0.94[CEU][hapmap];0.88[CHB][hapmap];0.80[JPT][hapmap]
rs2744966	0.94[CEU][hapmap];0.89[CHB][hapmap]
rs2744967	0.94[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2744968	1.00[CEU][hapmap];0.80[CHB][hapmap]
rs2764199	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2764200	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2764202	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2814950	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs2814954	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2814960	0.85[AFR][1000 genomes]
rs2814962	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs2814965	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2814990	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs2814998	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2815000	0.81[EUR][1000 genomes]
rs2815003	1.00[CEU][hapmap];0.94[CHB][hapmap];0.80[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3734260	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3734263	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs3736896	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777751	0.91[ASN][1000 genomes]
rs3798349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3798351	0.96[ASN][1000 genomes]
rs3800447	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs3800449	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs3800455	0.88[ASN][1000 genomes]
rs3800456	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41438444	0.80[JPT][hapmap];0.87[ASN][1000 genomes]
rs4646925	0.84[YRI][hapmap]
rs4711399	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4713823	0.82[ASN][1000 genomes]
rs56693020	0.96[AFR][1000 genomes]
rs56825685	0.84[ASN][1000 genomes]
rs56842618	0.94[ASN][1000 genomes]
rs57338415	0.84[ASN][1000 genomes]
rs57637041	0.83[ASN][1000 genomes]
rs57645599	0.94[ASN][1000 genomes]
rs57916801	0.90[ASN][1000 genomes]
rs58654146	0.91[ASN][1000 genomes]
rs58817410	0.91[ASN][1000 genomes]
rs58833137	0.84[ASN][1000 genomes]
rs59014029	0.90[ASN][1000 genomes]
rs59142559	0.99[AFR][1000 genomes]
rs59851773	0.91[ASN][1000 genomes]
rs59884600	0.94[ASN][1000 genomes]
rs59952325	0.91[ASN][1000 genomes]
rs60410089	0.94[ASN][1000 genomes]
rs60439875	0.87[ASN][1000 genomes]
rs60643641	0.82[AFR][1000 genomes]
rs60754257	0.87[ASN][1000 genomes]
rs6902912	0.83[YRI][hapmap]
rs6906500	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6911549	0.88[AFR][1000 genomes]
rs6932930	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73413893	0.89[ASN][1000 genomes]
rs73415706	0.93[ASN][1000 genomes]
rs73415742	0.94[ASN][1000 genomes]
rs73415758	0.93[ASN][1000 genomes]
rs73415760	0.93[ASN][1000 genomes]
rs73415779	0.93[ASN][1000 genomes]
rs73415781	0.94[ASN][1000 genomes]
rs73417752	0.92[ASN][1000 genomes]
rs73417786	0.92[ASN][1000 genomes]
rs73419607	0.87[AFR][1000 genomes]
rs73419615	0.91[ASN][1000 genomes]
rs73419621	0.86[AFR][1000 genomes]
rs73419643	0.87[ASN][1000 genomes]
rs73419650	0.85[ASN][1000 genomes]
rs73419656	0.84[ASN][1000 genomes]
rs73419658	0.84[ASN][1000 genomes]
rs73419660	0.84[ASN][1000 genomes]
rs73419689	0.86[ASN][1000 genomes]
rs7739335	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7751664	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7752237	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7755822	0.94[YRI][hapmap];0.93[AFR][1000 genomes]
rs7762485	0.82[AFR][1000 genomes]
rs7772600	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs847849	0.94[CHB][hapmap]
rs9296126	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9296130	0.89[AFR][1000 genomes]
rs9296137	0.88[YRI][hapmap]
rs9348954	0.83[CHB][hapmap]
rs9348955	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs9357186	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs9357189	0.93[CHB][hapmap]
rs9366871	1.00[JPT][hapmap]
rs9368829	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9380451	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9380471	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs9394257	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs9394259	0.83[CHB][hapmap]
rs9462012	0.89[AFR][1000 genomes]
rs9462014	0.92[YRI][hapmap];0.97[AFR][1000 genomes]
rs9462029	0.80[AFR][1000 genomes]
rs9469864	0.85[YRI][hapmap]
rs9469881	0.90[AFR][1000 genomes]
rs9469897	0.80[AFR][1000 genomes]
rs9469900	0.80[AFR][1000 genomes]
rs9469910	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs9469913	0.89[YRI][hapmap]
rs9688715	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
7	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv885795	chr6:34704613-34823187	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv870010	chr6:34713359-34880048	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv1025374	chr6:34723723-34887316	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv462905	chr6:34728253-34886436	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv602906	chr6:34728253-34886436	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1028363	chr6:34733071-34859045	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6939345	UHRF1BP1	cis	Whole Blood	GTEx
rs6939345	SNRPC	Cis_1M	lymphoblastoid	RTeQTL
rs6939345	UHRF1BP1	cis	Artery Tibial	GTEx
rs6939345	UHRF1BP1	cis	Adipose Subcutaneous	GTEx
rs6939345	C6orf107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34726000-34747800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:34726000-34750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:34726200-34736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:34726200-34738000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:34726200-34739600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:34726400-34739200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:34726400-34739800	Weak transcription	Stomach Mucosa	stomach
8	chr6:34726800-34747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:34727000-34739200	Strong transcription	Fetal Stomach	stomach
10	chr6:34727000-34740200	Strong transcription	Fetal Muscle Leg	muscle
11	chr6:34727000-34743400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:34727000-34743800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr6:34727000-34744000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:34727000-34744200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:34727000-34745200	Strong transcription	Fetal Thymus	thymus
16	chr6:34727200-34739600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:34727200-34743800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:34727200-34743800	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr6:34727200-34746600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:34727400-34745200	Strong transcription	Fetal Intestine Large	intestine
21	chr6:34727600-34738400	Strong transcription	Fetal Intestine Small	intestine
22	chr6:34727600-34739000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:34727800-34744800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:34727800-34745200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:34728400-34743200	Strong transcription	Brain Germinal Matrix	brain
26	chr6:34728400-34744400	Strong transcription	Dnd41	blood
27	chr6:34728600-34743800	Strong transcription	Liver	Liver
28	chr6:34728600-34748400	Weak transcription	Fetal Heart	heart
29	chr6:34728800-34738600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:34728800-34745400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr6:34729000-34738000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:34729000-34738600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:34729000-34739200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:34729200-34741400	Strong transcription	Ovary	ovary
35	chr6:34729400-34743600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:34729400-34744600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:34729600-34739000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:34729600-34743200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:34729600-34743200	Strong transcription	Placenta	Placenta
40	chr6:34729600-34743200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr6:34729600-34743600	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr6:34729600-34743800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:34729600-34743800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr6:34729600-34743800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr6:34729600-34744400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:34729600-34745000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:34729800-34738000	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:34729800-34739000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:34729800-34739200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:34729800-34739200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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