Variant report

Variant	rs1391511
Chromosome Location	chr10:4719796-4719797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1E2-7	chr10:4718640-4721519	NONHSAT011111

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12411645	1.00[YRI][hapmap]
rs4242771	0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7080649	0.89[ASN][1000 genomes]
rs924288	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894787	chr10:4385379-4857717	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv1798456	chr10:4689138-4731081	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1817443	chr10:4689138-4731081	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1831014	chr10:4689138-4731081	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1838419	chr10:4689138-4731081	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1805926	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1809203	chr10:4689842-4720626	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1840346	chr10:4689842-4720626	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv1842933	chr10:4689842-4720626	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1848476	chr10:4689842-4720626	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Neonatal lupus	20662065	GWAS catalog

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4714000-4719800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:4714000-4720800	Weak transcription	Right Atrium	heart
3	chr10:4714200-4720800	Weak transcription	Left Ventricle	heart
4	chr10:4714600-4719800	Weak transcription	HSMM	muscle
5	chr10:4714600-4719800	Weak transcription	HSMMtube	muscle
6	chr10:4715200-4720000	Weak transcription	Adipose Nuclei	Adipose
7	chr10:4715600-4721000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:4716200-4720000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:4716400-4726600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr10:4717800-4720600	Weak transcription	Esophagus	oesophagus
11	chr10:4717800-4727000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:4718400-4720800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr10:4719000-4720000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr10:4719000-4720200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:4719000-4720600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:4719000-4720600	Weak transcription	Gastric	stomach
17	chr10:4719200-4720200	Active TSS	HMEC	breast
18	chr10:4719200-4720600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:4719200-4720600	Weak transcription	Stomach Mucosa	stomach
20	chr10:4719200-4720600	Active TSS	HUVEC	blood vessel
21	chr10:4719400-4721200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr10:4719600-4719800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:4719600-4719800	Enhancers	Fetal Intestine Large	intestine
24	chr10:4719600-4719800	Enhancers	Hela-S3	cervix
25	chr10:4719600-4719800	Active TSS	NH-A	brain
26	chr10:4719600-4719800	Flanking Active TSS	NHEK	skin
27	chr10:4719600-4720000	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr10:4719600-4720000	Flanking Active TSS	A549	lung
29	chr10:4719600-4720200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr10:4719600-4720400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:4719600-4720400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:4719600-4720400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:4719600-4720600	Weak transcription	Pancreas	Pancrea
34	chr10:4719600-4720600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr10:4719600-4721000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:4719600-4721000	Enhancers	HepG2	liver
37	chr10:4719600-4721000	Flanking Active TSS	Osteobl	bone
38	chr10:4719600-4721200	Enhancers	NHDF-Ad	bronchial

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