Variant report

Variant	rs3805635
Chromosome Location	chr5:127673121-127673122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10519973	1.00[ASW][hapmap]
rs17164127	0.83[CHB][hapmap]
rs28763939	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3805652	0.83[CHB][hapmap]
rs6862508	0.83[CHB][hapmap]
rs6868664	0.83[CHB][hapmap]
rs6881855	0.83[CHB][hapmap]

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	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127638200-127685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:127657400-127685000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:127658000-127683600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:127659200-127693600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:127659200-127693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:127660600-127683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:127660600-127687000	Weak transcription	Fetal Brain Female	brain
8	chr5:127661000-127675800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:127661200-127674800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr5:127661200-127675600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr5:127661200-127683800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:127661200-127693000	Weak transcription	NHLF	lung
13	chr5:127661200-127693600	Strong transcription	Placenta	Placenta
14	chr5:127661800-127675000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:127661800-127683600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:127662000-127674400	Weak transcription	Fetal Intestine Small	intestine
17	chr5:127662000-127681400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:127662400-127674800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:127662400-127675800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:127663200-127675400	Weak transcription	Fetal Intestine Large	intestine
21	chr5:127664200-127673200	Weak transcription	NH-A	brain
22	chr5:127664600-127673200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:127664600-127678800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:127664600-127682000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:127665400-127674600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:127665400-127676600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:127666600-127675000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:127666800-127674800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:127666800-127676400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:127667400-127675600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:127667800-127673400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:127668400-127673400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:127668400-127676800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:127668600-127675600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:127668800-127675800	Strong transcription	Fetal Muscle Leg	muscle
36	chr5:127668800-127681200	Weak transcription	Gastric	stomach
37	chr5:127669200-127675000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr5:127669800-127674200	Strong transcription	Fetal Heart	heart
39	chr5:127669800-127675000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:127669800-127677400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:127670400-127673200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:127670800-127674800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:127671000-127673200	Weak transcription	Left Ventricle	heart
44	chr5:127671000-127676800	Weak transcription	Right Ventricle	heart
45	chr5:127671000-127677200	Weak transcription	Fetal Kidney	kidney
46	chr5:127671400-127673200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:127671800-127673200	Weak transcription	Fetal Lung	lung
48	chr5:127671800-127673200	Weak transcription	Fetal Stomach	stomach
49	chr5:127671800-127673200	Weak transcription	NHEK	skin
50	chr5:127671800-127674200	Weak transcription	H1 Cell Line	embryonic stem cell

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