Variant report

Variant	rs17003391
Chromosome Location	chr4:79523596-79523597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
2	chr4:79522193..79524527-chr4:79697309..79699707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260278	Chromatin interaction
ENSG00000138756	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1466765	1.00[AMR][1000 genomes]
rs17003211	1.00[AMR][1000 genomes]
rs17003335	1.00[AMR][1000 genomes]
rs17003386	1.00[AMR][1000 genomes]
rs4074041	1.00[AMR][1000 genomes]
rs57929143	1.00[AMR][1000 genomes]
rs5943	1.00[AMR][1000 genomes]
rs73831318	1.00[AMR][1000 genomes]
rs73831326	1.00[AMR][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	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
2	nsv967949	chr4:79511515-79527707	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
2	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:79488400-79523600	Weak transcription	Esophagus	oesophagus
4	chr4:79488400-79527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:79490800-79532600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:79491000-79529600	Weak transcription	Aorta	Aorta
7	chr4:79491200-79535400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:79491800-79533200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:79491800-79542600	Weak transcription	NH-A	brain
10	chr4:79492000-79531600	Strong transcription	HMEC	breast
11	chr4:79502200-79529200	Weak transcription	Colonic Mucosa	Colon
12	chr4:79502400-79525800	Weak transcription	Psoas Muscle	Psoas
13	chr4:79502400-79532200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:79506800-79523800	Weak transcription	Placenta	Placenta
15	chr4:79508200-79533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:79508600-79523600	Weak transcription	Adipose Nuclei	Adipose
17	chr4:79508800-79525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:79508800-79527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:79508800-79527400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:79511000-79523800	Weak transcription	Hela-S3	cervix
21	chr4:79512400-79523600	Weak transcription	Gastric	stomach
22	chr4:79512400-79524400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:79512600-79534200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:79512600-79536800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr4:79512800-79525600	Weak transcription	NHLF	lung
26	chr4:79513800-79534200	Strong transcription	NHEK	skin
27	chr4:79516000-79525400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:79517200-79534800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:79517600-79523600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr4:79517800-79524000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:79518000-79548000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:79518200-79524200	Strong transcription	Fetal Stomach	stomach
33	chr4:79518400-79528200	Strong transcription	Fetal Intestine Large	intestine
34	chr4:79518600-79524200	Strong transcription	Fetal Intestine Small	intestine
35	chr4:79518600-79543600	Weak transcription	Stomach Mucosa	stomach
36	chr4:79519200-79528400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:79520800-79524400	Strong transcription	Pancreas	Pancrea
38	chr4:79521000-79524200	Enhancers	Fetal Muscle Leg	muscle
39	chr4:79521200-79527600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr4:79521400-79523600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:79521400-79523600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:79521400-79523600	Weak transcription	Left Ventricle	heart
43	chr4:79521400-79523600	Weak transcription	Lung	lung
44	chr4:79521400-79529800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:79521400-79534000	Weak transcription	Right Ventricle	heart
46	chr4:79521600-79523600	Weak transcription	HUVEC	blood vessel
47	chr4:79521600-79523800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr4:79522200-79526600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:79522200-79529600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:79522400-79523600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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