Variant report

Variant	rs2023748
Chromosome Location	chr7:116436022-116436023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116435360..116437038-chr7:116438110..116441034,2	MCF-7	breast:
2	7:116339031-116340618..7:116434729-116454408	Hela-S3	cervix:
3	7:116071525-116078307..7:116434729-116454408	H1-hESC	embryonic stem cell:	embryo
4	7:116434729-116454408..7:117341506-117356953	Hela-S3	cervix:
5	7:116434729-116454408..7:117641436-117645830	GM12878	blood:
6	7:116434729-116454408..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
7	7:116434729-116454408..7:116782481-116788433	GM12878	blood:
8	7:116093970-116105948..7:116434729-116454408	GM12878	blood:
9	chr7:116434861..116437169-chr7:116440116..116443011,2	K562	blood:
10	7:115967532-115969617..7:116434729-116454408	H1-hESC	embryonic stem cell:	embryo
11	7:116245779-116258944..7:116434729-116454408	Hela-S3	cervix:
12	7:116434729-116454408..7:117326534-117332210	H1-hESC	embryonic stem cell:	embryo
13	7:116434729-116454408..7:116580605-116585719	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000252672	Chromatin interaction
ENSG00000226367	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000105976	Chromatin interaction
ENSG00000222150	Chromatin interaction
ENSG00000231210	Chromatin interaction
ENSG00000237813	Chromatin interaction
ENSG00000213050	Chromatin interaction
ENSG00000234826	Chromatin interaction
ENSG00000243243	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10435378	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1049618	1.00[YRI][hapmap]
rs168686	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183642	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs187437	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs193688	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2237717	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299439	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402118	0.84[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap]
rs35759345	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs38848	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs38851	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs38854	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs38859	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs39748	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs41735	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41736	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41737	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41738	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41739	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41744	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41746	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41747	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41748	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41749	0.96[AFR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41774	1.00[YRI][hapmap]
rs41775	1.00[YRI][hapmap]
rs42229	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs42336	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42374	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730762	1.00[YRI][hapmap]
rs6566	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947629	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6951311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6978135	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs964449	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831107	chr7:116414734-116649466	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2023748	KCND2	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116418000-116437600	Weak transcription	Spleen	Spleen
2	chr7:116421800-116444000	Weak transcription	Esophagus	oesophagus
3	chr7:116423000-116439000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:116423000-116442600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:116423200-116438000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:116424000-116440800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:116424200-116440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:116424200-116445400	Weak transcription	Left Ventricle	heart
9	chr7:116425000-116440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:116426200-116440800	Weak transcription	HSMMtube	muscle
11	chr7:116427000-116440800	Weak transcription	NHDF-Ad	bronchial
12	chr7:116427200-116437400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:116427400-116440200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:116427400-116445200	Weak transcription	Pancreas	Pancrea
15	chr7:116429000-116436400	Weak transcription	HepG2	liver
16	chr7:116429600-116441200	Weak transcription	Fetal Lung	lung
17	chr7:116430800-116440000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr7:116432400-116439200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:116432800-116437200	Strong transcription	NHEK	skin
20	chr7:116433200-116436400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:116433200-116436800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:116433200-116442400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:116433200-116442600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:116434200-116436400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:116434200-116436400	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr7:116434400-116437000	Strong transcription	Fetal Muscle Leg	muscle
27	chr7:116434600-116436800	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:116434800-116436200	Strong transcription	A549	lung
29	chr7:116434800-116442200	Weak transcription	Brain Substantia Nigra	brain
30	chr7:116435000-116437200	Weak transcription	Stomach Mucosa	stomach
31	chr7:116435000-116437400	Weak transcription	Fetal Intestine Large	intestine
32	chr7:116435000-116437800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:116435000-116438400	Weak transcription	Small Intestine	intestine
34	chr7:116435000-116438600	Weak transcription	Colonic Mucosa	Colon
35	chr7:116435200-116437800	Strong transcription	HSMM	muscle
36	chr7:116435200-116438000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr7:116435400-116439000	Strong transcription	Osteobl	bone
38	chr7:116435600-116436200	Genic enhancers	HUVEC	blood vessel
39	chr7:116435600-116436400	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:116435600-116436600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr7:116435600-116437000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:116435600-116437000	Genic enhancers	Fetal Intestine Small	intestine
43	chr7:116435600-116437000	Strong transcription	Fetal Stomach	stomach
44	chr7:116435600-116437800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:116435600-116438800	Strong transcription	HMEC	breast
46	chr7:116435800-116436200	ZNF genes & repeats	Aorta	Aorta
47	chr7:116435800-116436400	Strong transcription	Psoas Muscle	Psoas
48	chr7:116435800-116436400	Strong transcription	NH-A	brain
49	chr7:116435800-116436600	Genic enhancers	Hela-S3	cervix
50	chr7:116435800-116437000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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