Variant report

Variant	rs4711332
Chromosome Location	chr6:33595399-33595400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33594027..33596927-chr6:33599242..33602574,3	MCF-7	breast:
2	chr6:33587647..33590168-chr6:33590912..33595599,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10947416	0.88[AFR][1000 genomes]
rs11754012	0.87[EUR][1000 genomes]
rs1536043	0.88[AFR][1000 genomes]
rs1794681	0.84[LWK][hapmap];1.00[YRI][hapmap]
rs1794682	0.81[AFR][1000 genomes]
rs1977316	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4713641	0.88[AFR][1000 genomes]
rs4713642	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs4713643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713647	0.82[MKK][hapmap]
rs475982	1.00[YRI][hapmap]
rs485623	0.82[MKK][hapmap]
rs499384	0.88[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs578452	0.82[AFR][1000 genomes]
rs62407630	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6921216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921825	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7750812	0.85[AFR][1000 genomes]
rs7753712	0.82[AFR][1000 genomes]
rs7753829	0.82[AFR][1000 genomes]
rs7757722	0.85[MKK][hapmap]
rs7768401	0.85[AFR][1000 genomes]
rs7769019	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs7772621	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775537	0.85[AFR][1000 genomes]
rs86715	0.85[JPT][hapmap]
rs9348920	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs9394157	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs9469529	0.88[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS 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	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4711332	FTSJD2	cis	cerebellum	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33590200-33600600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr6:33590400-33600200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:33590400-33600400	Weak transcription	Psoas Muscle	Psoas
4	chr6:33590800-33595400	Weak transcription	HSMMtube	muscle
5	chr6:33591000-33595400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:33591000-33595600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:33591000-33595600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:33591000-33599000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:33591000-33600000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:33591000-33600200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:33591000-33600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:33591000-33600600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:33591000-33600600	Weak transcription	Osteobl	bone
14	chr6:33591200-33600800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:33591400-33595600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:33591400-33595600	Weak transcription	Right Atrium	heart
17	chr6:33591600-33595400	Weak transcription	Adipose Nuclei	Adipose
18	chr6:33591600-33595400	Weak transcription	Gastric	stomach
19	chr6:33591600-33595600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:33591600-33595600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:33591600-33598200	Weak transcription	Right Ventricle	heart
22	chr6:33591800-33595400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:33591800-33595400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr6:33591800-33595400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:33591800-33595600	Weak transcription	Esophagus	oesophagus
26	chr6:33591800-33595800	Weak transcription	Primary B cells from cord blood	blood
27	chr6:33591800-33597800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr6:33591800-33600200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr6:33592000-33595400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:33592000-33596000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:33592000-33596800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:33592000-33600200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:33592000-33600400	Genic enhancers	Fetal Intestine Small	intestine
34	chr6:33592200-33595400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:33592200-33595400	Weak transcription	A549	lung
36	chr6:33592200-33595800	Strong transcription	Primary T cells from cord blood	blood
37	chr6:33592200-33597000	Genic enhancers	Fetal Intestine Large	intestine
38	chr6:33592200-33598000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:33592200-33600000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:33592200-33600600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:33592400-33595400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:33592400-33595400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:33592400-33596000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:33592400-33598000	Weak transcription	Fetal Thymus	thymus
45	chr6:33592400-33598800	Genic enhancers	Hela-S3	cervix
46	chr6:33592400-33600400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:33592600-33595400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:33592600-33595400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:33592600-33595600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr6:33592600-33595600	Weak transcription	Left Ventricle	heart

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