Variant report

Variant	rs7595810
Chromosome Location	chr2:188330010-188330011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188329317..188331418-chr2:188341720..188346261,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CALCRL-1	chr2:188328960-188330769	NONHSAT076021

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11887657	1.00[JPT][hapmap]
rs12612748	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12622831	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1861309	0.86[EUR][1000 genomes]
rs3771070	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3771071	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3771072	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6731106	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6737903	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6760862	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73981578	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7565807	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176418	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176420	0.86[EUR][1000 genomes]
rs8176444	0.86[EUR][1000 genomes]
rs8176482	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8176490	0.88[EUR][1000 genomes]
rs8176497	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176594	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8176603	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8176606	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176608	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176611	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176616	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176622	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176625	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer 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
2	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv875557	chr2:188219052-188370232	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv584036	chr2:188256158-188369841	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv875562	chr2:188258904-188370232	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
14	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
17	nsv1011800	chr2:188301324-188340396	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
18	nsv875569	chr2:188327904-188341047	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188313400-188340000	Weak transcription	Fetal Brain Male	brain
2	chr2:188313600-188330400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:188324600-188332400	Weak transcription	HUVEC	blood vessel
4	chr2:188325400-188330400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:188325400-188334200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:188326800-188330400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:188326800-188341800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:188326800-188353600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:188326800-188357600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:188326800-188357800	Weak transcription	Lung	lung
11	chr2:188327000-188330400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:188327000-188332600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:188327000-188337400	Weak transcription	Pancreas	Pancrea
14	chr2:188327000-188339200	Weak transcription	Fetal Intestine Small	intestine
15	chr2:188327000-188357800	Weak transcription	Left Ventricle	heart
16	chr2:188327200-188357600	Weak transcription	Fetal Intestine Large	intestine
17	chr2:188327400-188332400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:188327400-188339000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:188327600-188341200	Weak transcription	NHDF-Ad	bronchial
20	chr2:188328000-188331200	Weak transcription	HepG2	liver
21	chr2:188328000-188331800	Weak transcription	NH-A	brain
22	chr2:188328200-188342200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:188328200-188357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:188328200-188360000	Weak transcription	Psoas Muscle	Psoas
25	chr2:188328400-188341800	Weak transcription	NHLF	lung
26	chr2:188328400-188343400	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:188328600-188357200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr2:188328800-188342000	Weak transcription	HSMMtube	muscle
30	chr2:188328800-188343000	Weak transcription	Fetal Stomach	stomach
31	chr2:188329000-188341800	Strong transcription	HSMM	muscle
32	chr2:188329000-188358000	Weak transcription	K562	blood
33	chr2:188329200-188330800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:188329200-188340200	Weak transcription	Hela-S3	cervix
35	chr2:188329200-188347800	Strong transcription	Liver	Liver
36	chr2:188329400-188333600	Strong transcription	Osteobl	bone
37	chr2:188329600-188330200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:188329600-188331800	Strong transcription	Placenta	Placenta
39	chr2:188329800-188330400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:188329800-188330600	Strong transcription	Fetal Lung	lung
41	chr2:188329800-188338600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:188330000-188330800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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