Variant report

Variant	rs4513893
Chromosome Location	chr7:140023982-140023983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:139761220..139765061-chr7:140022436..140026098,3	K562	blood:
2	chr7:139875688..139878782-chr7:140020537..140027140,7	K562	blood:
3	chr7:140015118..140018618-chr7:140021344..140024336,3	MCF-7	breast:
4	chr7:140019180..140022735-chr7:140023014..140025983,5	K562	blood:

Variant related genes	Relation type
ENSG00000006459	Chromatin interaction
ENSG00000059378	Chromatin interaction
ENSG00000260231	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10246187	0.83[AFR][1000 genomes]
rs10952635	0.80[AFR][1000 genomes]
rs10952639	0.84[ASN][1000 genomes]
rs12533908	0.89[CHB][hapmap]
rs12669023	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12703744	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs4476922	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952838	0.89[CHB][hapmap]
rs6956771	0.89[CHB][hapmap]
rs7776930	0.80[AMR][1000 genomes]
rs7790724	0.80[AMR][1000 genomes]
rs7800262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140016200-140025600	Weak transcription	Right Atrium	heart
2	chr7:140016200-140026000	Weak transcription	Fetal Kidney	kidney
3	chr7:140016200-140034000	Weak transcription	Pancreas	Pancrea
4	chr7:140016400-140025600	Weak transcription	Placenta	Placenta
5	chr7:140016400-140025800	Weak transcription	Ovary	ovary
6	chr7:140016800-140025600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:140016800-140025600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:140016800-140025800	Weak transcription	Osteobl	bone
9	chr7:140016800-140034200	Weak transcription	Small Intestine	intestine
10	chr7:140017000-140024000	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:140017000-140025600	Weak transcription	Fetal Intestine Small	intestine
12	chr7:140017000-140025600	Weak transcription	Hela-S3	cervix
13	chr7:140017000-140025600	Weak transcription	HepG2	liver
14	chr7:140017000-140025800	Weak transcription	Adipose Nuclei	Adipose
15	chr7:140017000-140033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:140017200-140032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:140017400-140025800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:140017600-140025800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:140017600-140033600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:140017600-140034000	Weak transcription	HMEC	breast
21	chr7:140018000-140025600	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:140018200-140026000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr7:140019400-140024800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr7:140020200-140025600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:140020400-140025600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr7:140020600-140025600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:140021800-140024000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr7:140022400-140024200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:140022400-140024200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:140022600-140025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:140022800-140024400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:140022800-140025600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:140022800-140025600	Weak transcription	Gastric	stomach
34	chr7:140022800-140025600	Weak transcription	Right Ventricle	heart
35	chr7:140022800-140025800	Weak transcription	Left Ventricle	heart
36	chr7:140022800-140026000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:140022800-140030400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:140023000-140025800	Weak transcription	Fetal Heart	heart
39	chr7:140023200-140024400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:140023200-140024400	Enhancers	K562	blood
41	chr7:140023200-140025600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:140023200-140025600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr7:140023200-140025600	Weak transcription	Stomach Mucosa	stomach
44	chr7:140023200-140025800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:140023200-140025800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:140023200-140025800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:140023400-140024000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr7:140023600-140025800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:140023600-140026000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr7:140023800-140024000	Enhancers	Rectal Smooth Muscle	rectum

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