Variant report

Variant	rs42230
Chromosome Location	chr7:116447776-116447777
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: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	chr7:116442420..116444484-chr7:116446523..116448838,2	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	chr7:116312036..116314941-chr7:116447219..116449000,2	MCF-7	breast:
5	7:116434729-116454408..7:117341506-117356953	Hela-S3	cervix:
6	7:116434729-116454408..7:117641436-117645830	GM12878	blood:
7	7:116434729-116454408..7:116610596-116619447	H1-hESC	embryonic stem cell:	embryo
8	7:116434729-116454408..7:116782481-116788433	GM12878	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:

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs41754	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41758	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41770	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41787	0.83[EUR][1000 genomes]
rs41789	0.83[EUR][1000 genomes]
rs42375	0.84[EUR][1000 genomes]
rs438	0.84[EUR][1000 genomes]
rs9640774	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116438800-116448600	Weak transcription	Psoas Muscle	Psoas
2	chr7:116441000-116448400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116443000-116449400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:116443200-116448600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:116443400-116449200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:116443600-116449600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:116443600-116449600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:116443600-116450000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:116444000-116449000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:116445400-116448600	Weak transcription	Fetal Stomach	stomach
11	chr7:116445400-116449400	Weak transcription	NHEK	skin
12	chr7:116445400-116450000	Weak transcription	Adipose Nuclei	Adipose
13	chr7:116445600-116448600	Weak transcription	Pancreas	Pancrea
14	chr7:116445600-116448600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:116445600-116448600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:116445600-116449600	Weak transcription	NHDF-Ad	bronchial
17	chr7:116445600-116450000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:116445600-116450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:116445600-116450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:116445600-116450000	Weak transcription	Placenta	Placenta
21	chr7:116445600-116450400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:116445800-116449400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:116445800-116449600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:116445800-116449600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:116446000-116449600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:116446200-116448400	Weak transcription	NHLF	lung
27	chr7:116446200-116449600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:116446200-116450000	Weak transcription	Osteobl	bone
29	chr7:116446400-116448600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:116446400-116448600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr7:116446400-116448600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:116446400-116448600	Weak transcription	Small Intestine	intestine
33	chr7:116446400-116448600	Weak transcription	Stomach Mucosa	stomach
34	chr7:116446400-116448800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:116446400-116449400	Enhancers	A549	lung
36	chr7:116446400-116449400	Enhancers	HepG2	liver
37	chr7:116446600-116448400	Weak transcription	Hela-S3	cervix
38	chr7:116446600-116449400	Weak transcription	Brain Angular Gyrus	brain
39	chr7:116446600-116450000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:116447200-116448400	Weak transcription	HUVEC	blood vessel
41	chr7:116447200-116448600	Weak transcription	Liver	Liver
42	chr7:116447200-116449400	Weak transcription	Fetal Lung	lung
43	chr7:116447400-116448600	Weak transcription	Fetal Intestine Large	intestine
44	chr7:116447400-116448600	Weak transcription	Fetal Intestine Small	intestine

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