Variant report

Variant	rs12504798
Chromosome Location	chr4:111042340-111042341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11936079	0.85[MEX][hapmap]
rs12512099	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12649452	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17041386	0.85[MEX][hapmap]
rs35757511	0.87[AMR][1000 genomes];0.87[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	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111024200-111049800	Weak transcription	Fetal Stomach	stomach
2	chr4:111026000-111061000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:111026400-111046000	Weak transcription	Left Ventricle	heart
4	chr4:111026400-111049200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:111028000-111047600	Weak transcription	Gastric	stomach
6	chr4:111028600-111054000	Weak transcription	HepG2	liver
7	chr4:111029600-111054200	Weak transcription	Liver	Liver
8	chr4:111030000-111060800	Weak transcription	A549	lung
9	chr4:111030000-111093800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:111030000-111098800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:111031200-111043800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:111031800-111066200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:111037600-111051400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:111038000-111051600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:111038200-111051600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:111038200-111056400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:111038600-111053000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:111038800-111043000	Weak transcription	K562	blood
19	chr4:111040400-111042400	Enhancers	HMEC	breast
20	chr4:111040400-111043800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:111040400-111066800	Weak transcription	Esophagus	oesophagus
22	chr4:111040800-111043000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:111041200-111042400	Enhancers	NHEK	skin
24	chr4:111041200-111049600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:111041200-111056600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:111041400-111042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:111041400-111043000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr4:111041400-111043200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:111041400-111045800	Weak transcription	GM12878-XiMat	blood
30	chr4:111041400-111049200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:111041400-111049200	Weak transcription	Stomach Mucosa	stomach
32	chr4:111041400-111053600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:111041400-111059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:111041600-111043000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:111041800-111042800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:111041800-111043000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:111041800-111043000	Weak transcription	NHDF-Ad	bronchial
38	chr4:111041800-111046000	Weak transcription	HUVEC	blood vessel
39	chr4:111041800-111049200	Weak transcription	Fetal Intestine Small	intestine
40	chr4:111041800-111049600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:111041800-111051800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:111041800-111054200	Weak transcription	Dnd41	blood
43	chr4:111041800-111070600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:111042000-111042800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:111042000-111043000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:111042000-111043000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:111042000-111043000	Weak transcription	Osteobl	bone
48	chr4:111042000-111043400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr4:111042000-111080200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:111042000-111084200	Weak transcription	NHLF	lung

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