Variant report

Variant	rs71439003
Chromosome Location	chr2:10473118-10473119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10472884..10475562-chr2:10547169..10549759,2	K562	blood:
2	chr2:10472099..10474167-chr2:10487438..10489460,2	K562	blood:
3	chr2:10470453..10473280-chr2:10497686..10499663,2	K562	blood:
4	chr2:10468279..10470594-chr2:10472692..10474737,2	MCF-7	breast:
5	chr2:10441048..10443760-chr2:10472606..10474607,2	K562	blood:
6	chr2:10471045..10473599-chr2:10487391..10488938,2	K562	blood:

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12465534	0.88[EUR][1000 genomes]
rs12476711	0.88[EUR][1000 genomes]
rs13004177	0.81[EUR][1000 genomes]
rs35434412	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35790543	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35935820	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4669571	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6716188	0.83[EUR][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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10463400-10473600	Enhancers	Lung	lung
2	chr2:10464200-10473600	Enhancers	Fetal Intestine Large	intestine
3	chr2:10466200-10473600	Genic enhancers	Fetal Intestine Small	intestine
4	chr2:10467200-10482800	Weak transcription	Psoas Muscle	Psoas
5	chr2:10468000-10473800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:10468400-10473800	Enhancers	Spleen	Spleen
7	chr2:10468600-10477800	Weak transcription	Brain Angular Gyrus	brain
8	chr2:10468800-10473800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:10469400-10473800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:10469400-10474200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:10469600-10473600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:10469600-10473600	Enhancers	Fetal Lung	lung
13	chr2:10469600-10473800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:10469600-10473800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:10469600-10473800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:10469600-10474200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:10469800-10473800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:10469800-10473800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:10469800-10473800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:10469800-10473800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:10469800-10473800	Enhancers	Pancreas	Pancrea
22	chr2:10470200-10473800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:10470400-10473400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:10470400-10473800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:10470800-10473800	Enhancers	Fetal Muscle Leg	muscle
26	chr2:10470800-10474000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:10471000-10473600	Enhancers	NH-A	brain
28	chr2:10471200-10475200	Weak transcription	HMEC	breast
29	chr2:10471200-10475200	Weak transcription	NHEK	skin
30	chr2:10471400-10473800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:10471400-10473800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:10471600-10473600	Enhancers	Right Ventricle	heart
33	chr2:10471600-10473800	Enhancers	HepG2	liver
34	chr2:10471600-10475000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:10471600-10475200	Weak transcription	HSMM	muscle
36	chr2:10471800-10473600	Enhancers	Adipose Nuclei	Adipose
37	chr2:10471800-10473800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:10471800-10473800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:10471800-10473800	Enhancers	Placenta	Placenta
40	chr2:10471800-10473800	Enhancers	Fetal Thymus	thymus
41	chr2:10471800-10474000	Enhancers	A549	lung
42	chr2:10471800-10475400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:10471800-10475400	Weak transcription	HSMMtube	muscle
44	chr2:10472000-10473600	Enhancers	Primary B cells from peripheral blood	blood
45	chr2:10472000-10473600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:10472000-10473600	Enhancers	Brain Hippocampus Middle	brain
47	chr2:10472000-10473600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:10472000-10473800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:10472000-10473800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:10472000-10475200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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