Variant report

Variant	rs17041330
Chromosome Location	chr4:110988287-110988288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12498468	0.87[EUR][1000 genomes]
rs12505992	0.87[EUR][1000 genomes]
rs17041292	0.85[AFR][1000 genomes]
rs17041315	0.95[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17041324	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7684686	0.95[AFR][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	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
2	esv1798003	chr4:110981611-110996948	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv966478	chr4:110985403-110995212	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110964600-111004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:110965400-110994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:110970800-110995800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:110971800-110992800	Weak transcription	Fetal Stomach	stomach
5	chr4:110973000-110991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:110973000-111009200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:110973400-110992400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:110974400-110990600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:110974600-110992600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:110977200-110992400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:110977200-110992600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:110980200-110992600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:110980200-111004000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:110980800-110990800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:110981000-110997000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:110981000-111004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:110981400-110991000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:110981400-110992600	Weak transcription	Adipose Nuclei	Adipose
19	chr4:110981400-111006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:110981400-111009200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:110981600-110989400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:110982000-110988400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:110982000-110990600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:110982000-110991800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:110982000-110993200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:110982000-110994400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:110982000-110994400	Weak transcription	Osteobl	bone
28	chr4:110982000-110995000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:110982000-110995800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:110982000-111003800	Weak transcription	NHEK	skin
31	chr4:110982200-110994600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:110982600-110996200	Weak transcription	Dnd41	blood
33	chr4:110983600-110988600	Weak transcription	K562	blood
34	chr4:110984000-110998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:110984000-111006200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:110984600-110992600	Weak transcription	Brain Substantia Nigra	brain
37	chr4:110984800-110990600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:110985600-110990800	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:110985600-111006000	Weak transcription	Fetal Intestine Small	intestine
40	chr4:110986200-110989400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:110986200-110994000	Weak transcription	Liver	Liver
42	chr4:110986200-111009400	Weak transcription	NHLF	lung
43	chr4:110986800-111006000	Weak transcription	HepG2	liver

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