Variant report

Variant	rs17003211
Chromosome Location	chr4:79347674-79347675
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79347672..79350367-chr4:79353412..79355939,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1466765	1.00[AMR][1000 genomes]
rs17003335	1.00[AMR][1000 genomes]
rs17003386	1.00[AMR][1000 genomes]
rs17003391	1.00[AMR][1000 genomes]
rs28633380	1.00[AMR][1000 genomes]
rs57440858	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57929143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5943	1.00[AMR][1000 genomes]
rs60206494	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6835875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831318	1.00[AMR][1000 genomes]
rs73831326	1.00[AMR][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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79284600-79353600	Weak transcription	Left Ventricle	heart
2	chr4:79302400-79353800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:79318800-79353600	Weak transcription	Pancreas	Pancrea
4	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
5	chr4:79329000-79362000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:79332200-79353800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:79332600-79362000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:79333200-79391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:79335000-79355600	Weak transcription	Fetal Brain Male	brain
10	chr4:79339000-79374200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:79339200-79354200	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr4:79339400-79373000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:79339600-79354400	Weak transcription	HSMMtube	muscle
14	chr4:79339600-79360600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:79339600-79360600	Weak transcription	HMEC	breast
16	chr4:79339800-79353800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:79339800-79370400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:79339800-79370400	Weak transcription	Fetal Lung	lung
19	chr4:79339800-79374800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:79340000-79354600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr4:79340000-79356000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:79340000-79374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:79340400-79348000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:79340400-79348600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:79340400-79353600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:79340400-79362800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:79341200-79353600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:79341800-79353800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:79341800-79372600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:79342800-79348000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:79343800-79350200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:79344000-79350200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:79344200-79370800	Weak transcription	Fetal Heart	heart
35	chr4:79344200-79375600	Weak transcription	Fetal Stomach	stomach
36	chr4:79344800-79348600	Enhancers	Fetal Intestine Large	intestine
37	chr4:79344800-79351000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:79345600-79353600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:79345800-79348600	Genic enhancers	Fetal Intestine Small	intestine
40	chr4:79346200-79353600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:79346600-79349800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:79347200-79347800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:79347200-79349200	Enhancers	Fetal Kidney	kidney
44	chr4:79347200-79350000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:79347400-79348000	Genic enhancers	HepG2	liver
46	chr4:79347600-79347800	Enhancers	Stomach Mucosa	stomach
47	chr4:79347600-79348400	Enhancers	Duodenum Mucosa	Duodenum
48	chr4:79347600-79349000	Enhancers	A549	lung

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