Variant report

Variant	rs12191571
Chromosome Location	chr6:33880480-33880481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33880039..33882113-chr6:33922615..33924375,2	K562	blood:
2	chr6:33878954..33881384-chr6:33881544..33883413,2	MCF-7	breast:
3	chr6:33874668..33878393-chr6:33879974..33881906,3	K562	blood:
4	chr6:33875969..33877770-chr6:33880104..33881906,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITPR3-1	chr6:33878879-33881988	XLOC_005263
2	lnc-ITPR3-1	chr6:33878879-33881988	ENSG00000233183

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1107713	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12204774	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216099	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216247	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869677	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[ASN][1000 genomes]
rs56334904	0.82[ASN][1000 genomes]
rs56673015	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59611552	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73744913	0.82[ASN][1000 genomes]
rs73744932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461928	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461929	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469624	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9469625	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469626	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469627	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469628	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469629	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9469631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469632	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469633	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469634	1.00[EUR][1000 genomes];1.00[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	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv462899	chr6:33880480-33944014	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv602841	chr6:33880480-33944014	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	5 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	chr6:33865600-33883000	Weak transcription	Esophagus	oesophagus
2	chr6:33873000-33884000	Enhancers	Fetal Thymus	thymus
3	chr6:33873400-33883800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:33873800-33882000	Weak transcription	Spleen	Spleen
5	chr6:33874000-33881800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:33874200-33882200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:33874200-33889200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:33875400-33881400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:33875400-33881400	Weak transcription	Thymus	Thymus
10	chr6:33876000-33880800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:33876600-33881800	Weak transcription	Primary B cells from cord blood	blood
12	chr6:33876600-33882000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:33876800-33882000	Weak transcription	GM12878-XiMat	blood
14	chr6:33877000-33881600	Weak transcription	Primary T cells from cord blood	blood
15	chr6:33877800-33881400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:33878000-33883600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:33878400-33883200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:33879400-33881200	Enhancers	Colon Smooth Muscle	Colon
19	chr6:33879600-33880600	Enhancers	Rectal Smooth Muscle	rectum
20	chr6:33879600-33880800	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr6:33879800-33881000	Enhancers	Stomach Smooth Muscle	stomach
22	chr6:33879800-33883800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:33879800-33883800	Enhancers	Fetal Stomach	stomach
24	chr6:33880000-33880600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:33880000-33881000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:33880000-33882000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:33880000-33882200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr6:33880000-33882400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:33880400-33880800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:33880400-33882200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr6:33880400-33883000	Weak transcription	Fetal Lung	lung

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