Variant report

Variant	rs42374
Chromosome Location	chr7:116444070-116444071
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:116339031-116340618..7:116434729-116454408	Hela-S3	cervix:
2	7:116071525-116078307..7:116434729-116454408	H1-hESC	embryonic stem cell:	embryo
3	7:116434729-116454408..7:117341506-117356953	Hela-S3	cervix:
4	7:116434729-116454408..7:117641436-117645830	GM12878	blood:
5	chr7:116442420..116444484-chr7:116446523..116448838,2	MCF-7	breast:
6	7:116434729-116454408..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
7	7:116434729-116454408..7:116782481-116788433	GM12878	blood:
8	chr7:116437480..116439119-chr7:116441918..116444462,2	K562	blood:
9	7:116093970-116105948..7:116434729-116454408	GM12878	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:
14	chr7:116441710..116444536-chr7:116449070..116450734,2	MCF-7	breast:

No data

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10435378	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs168686	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16945	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs183642	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs187437	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs193688	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2023748	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237717	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299439	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35759345	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs38859	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41735	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41736	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41737	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41738	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41739	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41743	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41744	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41746	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41747	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41748	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41749	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42229	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs42336	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6566	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6947629	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6951311	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6978135	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116424200-116445400	Weak transcription	Left Ventricle	heart
2	chr7:116427400-116445200	Weak transcription	Pancreas	Pancrea
3	chr7:116436600-116445000	Enhancers	Hela-S3	cervix
4	chr7:116437000-116444600	Weak transcription	Fetal Stomach	stomach
5	chr7:116438800-116444600	Weak transcription	Colonic Mucosa	Colon
6	chr7:116438800-116448600	Weak transcription	Psoas Muscle	Psoas
7	chr7:116439800-116444600	Weak transcription	Small Intestine	intestine
8	chr7:116439800-116446000	Enhancers	Liver	Liver
9	chr7:116440600-116445400	Enhancers	HepG2	liver
10	chr7:116440800-116445200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr7:116441000-116448400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:116442200-116445400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:116442200-116446400	Enhancers	Fetal Muscle Leg	muscle
14	chr7:116442400-116445200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:116442400-116446800	Enhancers	Fetal Intestine Large	intestine
16	chr7:116442400-116446800	Enhancers	Fetal Intestine Small	intestine
17	chr7:116442600-116446400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr7:116442800-116445800	Enhancers	Stomach Mucosa	stomach
19	chr7:116442800-116446400	Enhancers	Duodenum Mucosa	Duodenum
20	chr7:116443000-116445200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:116443000-116445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:116443000-116445400	Weak transcription	Fetal Kidney	kidney
23	chr7:116443000-116449400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:116443200-116444600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:116443200-116445200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:116443200-116448600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:116443400-116444200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr7:116443400-116444600	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:116443400-116444600	Weak transcription	Fetal Lung	lung
30	chr7:116443400-116444600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:116443400-116444600	Weak transcription	NHDF-Ad	bronchial
32	chr7:116443400-116445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:116443400-116445200	Weak transcription	Brain Anterior Caudate	brain
34	chr7:116443400-116449200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:116443600-116444600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:116443600-116444600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:116443600-116444600	Weak transcription	Adipose Nuclei	Adipose
38	chr7:116443600-116444600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:116443600-116444800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:116443600-116445000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:116443600-116445000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:116443600-116445000	Weak transcription	NHLF	lung
43	chr7:116443600-116445000	Weak transcription	Osteobl	bone
44	chr7:116443600-116445200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:116443600-116445200	Weak transcription	Brain Angular Gyrus	brain
46	chr7:116443600-116445200	Weak transcription	HSMM	muscle
47	chr7:116443600-116445200	Weak transcription	HSMMtube	muscle
48	chr7:116443600-116445400	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:116443600-116445800	Weak transcription	HUVEC	blood vessel
50	chr7:116443600-116446200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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