Variant report

Variant	rs55953323
Chromosome Location	chr7:140079469-140079470
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11761131	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11761571	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66646584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72611553	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140033600-140096000	Weak transcription	Stomach Mucosa	stomach
2	chr7:140034800-140085600	Weak transcription	Psoas Muscle	Psoas
3	chr7:140042000-140084800	Weak transcription	Hela-S3	cervix
4	chr7:140047600-140084200	Weak transcription	Fetal Brain Male	brain
5	chr7:140049200-140090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:140052000-140097400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:140052800-140079600	Weak transcription	NHDF-Ad	bronchial
8	chr7:140054200-140079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:140058600-140096000	Weak transcription	Small Intestine	intestine
10	chr7:140058800-140081400	Weak transcription	A549	lung
11	chr7:140058800-140084400	Weak transcription	Gastric	stomach
12	chr7:140058800-140097200	Weak transcription	Brain Anterior Caudate	brain
13	chr7:140059400-140091400	Weak transcription	Fetal Heart	heart
14	chr7:140063400-140082600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr7:140068000-140089000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:140069200-140082000	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:140069600-140091800	Weak transcription	Esophagus	oesophagus
18	chr7:140072000-140082400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:140072400-140079600	Weak transcription	NHEK	skin
20	chr7:140074000-140082200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:140074000-140082200	Strong transcription	Fetal Stomach	stomach
22	chr7:140074200-140082400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:140074800-140082400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:140075400-140082200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:140075400-140082400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:140075400-140082400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:140075400-140082400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:140075400-140082400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:140075600-140080200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:140075600-140081800	Strong transcription	Fetal Intestine Small	intestine
31	chr7:140075600-140082400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:140075600-140082400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:140075600-140082400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:140075600-140082400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:140075600-140082400	Strong transcription	Adipose Nuclei	Adipose
36	chr7:140075600-140082400	Strong transcription	Liver	Liver
37	chr7:140075600-140082400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr7:140075600-140082400	Strong transcription	Fetal Intestine Large	intestine
39	chr7:140075600-140082400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:140075600-140082600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:140075600-140082600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:140076000-140079800	Weak transcription	Primary B cells from cord blood	blood
43	chr7:140076200-140079800	Weak transcription	HepG2	liver
44	chr7:140076200-140082400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:140076400-140082400	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr7:140076400-140088800	Weak transcription	GM12878-XiMat	blood
47	chr7:140076600-140079600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:140076600-140079800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:140076600-140079800	Weak transcription	Fetal Lung	lung
50	chr7:140076600-140082200	Strong transcription	Fetal Brain Female	brain

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