Variant report

Variant	rs2377615
Chromosome Location	chr10:49861468-49861469
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49861457-49861507	HCF	heart:	n/a
2	chr10:49861457-49861507	HCM	heart:	n/a
3	chr10:49861457-49861507	BE2_C	brain:	n/a
4	chr10:49861457-49861507	HMEC	breast:	n/a
5	chr10:49861457-49861507	AG09309	skin:	n/a
6	chr10:49861457-49861507	IMR90	lung:	fetal
7	chr10:49861457-49861507	Hela-S3	cervix:	n/a
8	chr10:49861457-49861507	HIPEpiC	eye:	n/a
9	chr10:49861457-49861507	ECC-1	luminal epithelium:	n/a
10	chr10:49861457-49861507	HL-60	blood:	n/a
11	chr10:49861457-49861507	HRCEpiC	kidney:	n/a
12	chr10:49861457-49861507	U87	brain:	n/a
13	chr10:49861457-49861507	GM19239	blood:	n/a
14	chr10:49861457-49861507	GM12891	blood:	n/a
15	chr10:49861457-49861507	AoSMC	blood vessel:	n/a
16	chr10:49861457-49861507	HCPEpiC	choroid plexus:	n/a
17	chr10:49861457-49861507	NHBE	bronchial:	n/a
18	chr10:49861457-49861507	A549	lung:	n/a
19	chr10:49861457-49861507	HPAEpiC	pulmonary alveolar:	n/a
20	chr10:49861457-49861507	MCF10A-Er-Src	breast:	n/a
21	chr10:49861457-49861507	SK-N-SH	brain:	n/a
22	chr10:49861457-49861507	NH-A	brain:	n/a
23	chr10:49861457-49861507	NT2-D1	testis:	n/a
24	chr10:49861457-49861507	AG10803	skin:	n/a
25	chr10:49861457-49861507	LNCaP	prostate:	n/a
26	chr10:49861457-49861507	Caco-2	colon:	n/a
27	chr10:49861457-49861507	HRE	kidney:	n/a
28	chr10:49861457-49861507	RPTEC	kidney:	n/a
29	chr10:49861457-49861507	GM12892	blood:	n/a
30	chr10:49861457-49861507	AG09319	gingival:	n/a
31	chr10:49861457-49861507	SAEC	small airway:	n/a
32	chr10:49861457-49861507	GM12878	blood:	n/a
33	chr10:49861457-49861507	NB4	blood:	n/a
34	chr10:49861457-49861507	AG04450	lung:	fetal
35	chr10:49861457-49861507	H1-hESC	embryonic stem cell:	embryo
36	chr10:49861457-49861507	HNPCEpiC	eye:	n/a
37	chr10:49861457-49861507	PANC-1	pancreas:	n/a
38	chr10:49861457-49861507	K562	blood:	n/a
39	chr10:49861457-49861507	HEEpiC	esophagus:	n/a
40	chr10:49861457-49861507	GM06990	blood:	n/a
41	chr10:49861457-49861507	Hepatocyte	liver:	n/a
42	chr10:49861457-49861507	BJ	skin:	n/a
43	chr10:49861457-49861507	PFSK-1	brain:	n/a
44	chr10:49861457-49861507	AG04449	skin:	fetal
45	chr10:49861457-49861507	HUVEC	blood vessel:	n/a
46	chr10:49861457-49861507	SKMC	muscle:	n/a
47	chr10:49861457-49861507	MCF-7	breast:	n/a
48	chr10:49861457-49861507	HEK293	kidney:	embryo
49	chr10:49861457-49861507	Jurkat	blood:	n/a
50	chr10:49861457-49861507	SK-N-MC	brain:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49714827..49719872-chr10:49861427..49864767,4	K562	blood:

No data

Variant related genes	Relation type
ARHGAP22	CpG island
ENSG00000248682	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10857616	0.88[ASN][1000 genomes]
rs11101416	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12257645	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377595	0.91[ASN][1000 genomes]
rs2377596	0.90[ASN][1000 genomes]
rs2377612	0.96[ASN][1000 genomes]
rs2377613	0.96[ASN][1000 genomes]
rs2377614	0.96[ASN][1000 genomes]
rs2377616	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377618	0.87[EUR][1000 genomes]
rs4240515	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4373841	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4375365	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4525142	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4562728	0.93[ASN][1000 genomes]
rs7087882	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7087885	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7911516	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription 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	20 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	chr10:49843400-49862600	Weak transcription	NHLF	lung
2	chr10:49844000-49863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:49848000-49861600	Weak transcription	Osteobl	bone
4	chr10:49850600-49863400	Weak transcription	Pancreas	Pancrea
5	chr10:49852200-49862400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:49853000-49863400	Weak transcription	Right Atrium	heart
7	chr10:49853800-49863400	Weak transcription	Aorta	Aorta
8	chr10:49854200-49863400	Weak transcription	Brain Angular Gyrus	brain
9	chr10:49855000-49862600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:49856200-49863200	Weak transcription	Spleen	Spleen
11	chr10:49856600-49862400	Weak transcription	HMEC	breast
12	chr10:49859200-49863400	Enhancers	Brain Substantia Nigra	brain
13	chr10:49859400-49863000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:49859600-49861800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr10:49860000-49862600	Weak transcription	Adipose Nuclei	Adipose
16	chr10:49860200-49862400	Weak transcription	HSMM	muscle
17	chr10:49860200-49863200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:49860400-49861800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr10:49860400-49862400	Weak transcription	Brain Anterior Caudate	brain
20	chr10:49860400-49863200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:49860400-49863400	Weak transcription	HSMMtube	muscle
22	chr10:49860600-49863400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:49860800-49861600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:49860800-49862400	Weak transcription	Brain Hippocampus Middle	brain
25	chr10:49861200-49862400	Weak transcription	Colonic Mucosa	Colon
26	chr10:49861200-49862800	Enhancers	Brain Cingulate Gyrus	brain
27	chr10:49861400-49861600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:49861400-49861600	Active TSS	GM12878-XiMat	blood
29	chr10:49861400-49861800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:49861400-49861800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:49861400-49861800	ZNF genes & repeats	Lung	lung

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