Variant report

Variant	rs7680893
Chromosome Location	chr4:111052056-111052057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:111051056..111053256-chr4:111055105..111058356,3	K562	blood:
2	chr4:111046771..111053341-chr4:111055463..111062117,9	K562	blood:
3	chr4:111051960..111054301-chr4:111118145..111120321,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170522	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10010167	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125819	0.85[JPT][hapmap]
rs11723007	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62326562	0.84[EUR][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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111026000-111061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:111028600-111054000	Weak transcription	HepG2	liver
3	chr4:111029600-111054200	Weak transcription	Liver	Liver
4	chr4:111030000-111060800	Weak transcription	A549	lung
5	chr4:111030000-111093800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:111030000-111098800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:111031800-111066200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:111038200-111056400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:111038600-111053000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:111040400-111066800	Weak transcription	Esophagus	oesophagus
11	chr4:111041200-111056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:111041400-111053600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:111041400-111059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:111041800-111054200	Weak transcription	Dnd41	blood
15	chr4:111041800-111070600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:111042000-111080200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:111042000-111084200	Weak transcription	NHLF	lung
18	chr4:111042800-111065200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:111043400-111053800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:111043600-111054000	Weak transcription	Osteobl	bone
21	chr4:111044200-111055400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:111044600-111053000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:111048400-111054800	Weak transcription	Primary T cells from cord blood	blood
24	chr4:111049400-111052400	Enhancers	HMEC	breast
25	chr4:111049400-111053200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:111049600-111067200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:111049800-111052400	Enhancers	NHEK	skin
28	chr4:111049800-111053400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:111050200-111054600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:111050200-111086600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:111051000-111053000	Weak transcription	K562	blood
32	chr4:111051000-111054600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:111051000-111055200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:111051200-111052600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr4:111051400-111054200	Enhancers	Duodenum Mucosa	Duodenum
36	chr4:111051400-111057200	Weak transcription	Fetal Thymus	thymus
37	chr4:111051400-111060200	Enhancers	Fetal Intestine Small	intestine
38	chr4:111051400-111061600	Enhancers	Fetal Intestine Large	intestine
39	chr4:111051600-111052200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr4:111051600-111052400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:111051600-111053000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:111051600-111055600	Enhancers	Stomach Mucosa	stomach
43	chr4:111051600-111056000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr4:111051800-111052200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr4:111051800-111052400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:111051800-111052400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:111051800-111052400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:111052000-111052400	Enhancers	Fetal Kidney	kidney
49	chr4:111052000-111053200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:111052000-111054200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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