Variant report

Variant	rs9380516
Chromosome Location	chr6:35502202-35502203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35501864..35503625-chr6:35509174..35512164,2	K562	blood:
2	chr6:35501014..35503138-chr6:35532194..35534250,2	K562	blood:
3	chr6:35500888..35503131-chr6:35698327..35701052,2	MCF-7	breast:
4	chr6:35501734..35503612-chr6:35506709..35508923,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10947556	0.80[AMR][1000 genomes]
rs1413896	0.90[CHB][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap]
rs1540909	0.87[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2050162	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2064318	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2143404	0.82[MEX][hapmap]
rs2395630	0.87[EUR][1000 genomes]
rs2894402	0.87[MKK][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs3800374	1.00[MEX][hapmap]
rs3807049	0.85[YRI][hapmap]
rs3997734	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4634451	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4711420	0.83[ASN][1000 genomes]
rs4713879	0.85[CEU][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4713890	0.80[AMR][1000 genomes]
rs4713891	0.80[AMR][1000 genomes]
rs57630882	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6457830	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6923949	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6935833	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6935976	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7747190	0.80[AMR][1000 genomes]
rs7748266	0.82[MEX][hapmap]
rs7752728	0.94[GIH][hapmap]
rs7753746	0.82[MEX][hapmap]
rs7764472	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9296155	1.00[CEU][hapmap];0.87[CHD][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9394305	0.80[AMR][1000 genomes]
rs9470048	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9470055	0.90[CHB][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap]
rs992105	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
2	nsv462909	chr6:35457396-35502202	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
3	nsv602912	chr6:35457396-35502202	Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	esv2761067	chr6:35471246-35573245	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
7	nsv1022435	chr6:35476562-35556141	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
8	nsv1034786	chr6:35476562-35564799	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1031987	chr6:35476562-35579375	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1028302	chr6:35480914-35542591	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv538197	chr6:35480914-35542591	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv1024680	chr6:35480914-35555596	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv538198	chr6:35480914-35555596	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv1032973	chr6:35481880-35564799	Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv7889	chr6:35495503-35566388	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	esv3692893	chr6:35498098-35565422	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
17	nsv1021290	chr6:35501804-35555735	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
18	nsv538199	chr6:35501804-35555735	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
19	nsv1029827	chr6:35502004-35555596	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
20	nsv538200	chr6:35502004-35555596	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
21	nsv462910	chr6:35502202-35555183	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS 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	7 gene(s)	inside rSNPs	diseases
22	nsv602921	chr6:35502202-35555183	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
23	nsv462911	chr6:35502202-35562640	Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
24	nsv462912	chr6:35502202-35562640	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
25	nsv470813	chr6:35502202-35562640	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
26	nsv602922	chr6:35502202-35562640	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
27	nsv818412	chr6:35502202-35562640	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
28	nsv462913	chr6:35502202-35592744	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
29	nsv602923	chr6:35502202-35592744	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
30	nsv517211	chr6:35502202-35607571	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Hepatitis C induced liver fibrosis	22841784	GWAS catalog

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35501200-35504600	Enhancers	Fetal Thymus	thymus
2	chr6:35501400-35502800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:35501400-35503400	Enhancers	Fetal Brain Male	brain
4	chr6:35501400-35503600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:35501600-35502400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr6:35501600-35502800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:35501600-35502800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:35501600-35502800	Enhancers	Fetal Muscle Leg	muscle
9	chr6:35501600-35503200	Enhancers	Fetal Stomach	stomach
10	chr6:35501600-35503600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:35501800-35502400	Enhancers	Primary hematopoietic stem cells	blood
12	chr6:35501800-35502400	Enhancers	Fetal Lung	lung
13	chr6:35501800-35502400	Enhancers	Spleen	Spleen
14	chr6:35501800-35502400	Bivalent Enhancer	HepG2	liver
15	chr6:35501800-35502600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:35501800-35502600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:35501800-35502600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:35501800-35502800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:35501800-35503000	Enhancers	Fetal Muscle Trunk	muscle
20	chr6:35501800-35503400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:35501800-35503400	Enhancers	Dnd41	blood
22	chr6:35501800-35503600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:35502000-35502400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:35502000-35502400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr6:35502000-35502400	Enhancers	Primary T cells from cord blood	blood
26	chr6:35502000-35502400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr6:35502000-35502400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
28	chr6:35502000-35502400	Enhancers	Ovary	ovary
29	chr6:35502000-35502400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:35502000-35502600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:35502000-35502600	Enhancers	H9 Cell Line	embryonic stem cell
32	chr6:35502000-35502600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:35502000-35502800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:35502000-35503200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:35502000-35503200	Enhancers	Placenta	Placenta
36	chr6:35502000-35503800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:35502200-35502400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:35502200-35502400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:35502200-35502400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr6:35502200-35502400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:35502200-35502400	Enhancers	Brain Cingulate Gyrus	brain
42	chr6:35502200-35502400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr6:35502200-35502400	Flanking Active TSS	Thymus	Thymus
44	chr6:35502200-35502600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:35502200-35502600	Enhancers	Brain Germinal Matrix	brain
46	chr6:35502200-35502600	Flanking Active TSS	Fetal Brain Female	brain
47	chr6:35502200-35502800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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