Variant report

Variant	rs17600487
Chromosome Location	chr4:22505748-22505749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10022239	1.00[CHB][hapmap]
rs10025779	1.00[CHB][hapmap]
rs13108229	1.00[CHB][hapmap]
rs16872745	1.00[YRI][hapmap]
rs17598797	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17598910	1.00[CHB][hapmap]
rs1870955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870956	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1870957	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4235298	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs61793400	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793401	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61793418	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6818233	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6824902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717674	1.00[YRI][hapmap]

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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22485000-22506000	Weak transcription	Esophagus	oesophagus
2	chr4:22488600-22516000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:22490200-22508600	Weak transcription	Right Atrium	heart
4	chr4:22492800-22506000	Weak transcription	Lung	lung
5	chr4:22493800-22506200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:22497000-22515600	Weak transcription	Fetal Stomach	stomach
7	chr4:22497200-22506000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:22500000-22508200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:22500400-22510600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:22500400-22510600	Enhancers	HMEC	breast
11	chr4:22500600-22507800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:22500600-22510800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:22500800-22506600	Enhancers	Fetal Heart	heart
14	chr4:22500800-22507600	Weak transcription	Ovary	ovary
15	chr4:22501000-22506000	Weak transcription	Brain Germinal Matrix	brain
16	chr4:22501800-22506800	Enhancers	Pancreas	Pancrea
17	chr4:22501800-22508000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:22502000-22506200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:22502200-22506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:22502200-22515600	Weak transcription	Primary T cells from cord blood	blood
21	chr4:22502800-22506000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:22502800-22506200	Weak transcription	Fetal Muscle Leg	muscle
23	chr4:22502800-22507800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:22502800-22509800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:22502800-22515600	Weak transcription	Fetal Kidney	kidney
26	chr4:22503000-22507600	Weak transcription	Stomach Mucosa	stomach
27	chr4:22503200-22506000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:22503200-22508400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:22503200-22515600	Weak transcription	NHDF-Ad	bronchial
30	chr4:22503400-22505800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:22503400-22508200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:22503400-22508200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:22504000-22506000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:22504000-22506000	Weak transcription	Right Ventricle	heart
35	chr4:22504000-22506400	Enhancers	Fetal Lung	lung
36	chr4:22504000-22507200	Enhancers	NHEK	skin
37	chr4:22504000-22508600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:22504000-22514200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:22504200-22506000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr4:22504200-22506000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:22504200-22506600	Weak transcription	HSMM	muscle
42	chr4:22504200-22507400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:22504400-22505800	Enhancers	HepG2	liver
44	chr4:22504400-22506000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:22504600-22506200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:22504600-22507200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr4:22504800-22506000	Weak transcription	Left Ventricle	heart
48	chr4:22504800-22506200	Weak transcription	HSMMtube	muscle
49	chr4:22504800-22506600	Weak transcription	NHLF	lung
50	chr4:22504800-22509200	Weak transcription	Placenta	Placenta

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