Variant report

Variant	rs2227803
Chromosome Location	chr5:76030854-76030855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:76019532..76021733-chr5:76028622..76031324,3	K562	blood:
2	chr5:76025270..76027765-chr5:76030412..76033336,2	K562	blood:
3	chr5:76021774..76024376-chr5:76030614..76032176,2	K562	blood:
4	chr5:76028712..76031262-chr5:76040651..76044472,3	K562	blood:
5	chr5:76017345..76018968-chr5:76030272..76032343,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2227777	1.00[EUR][1000 genomes]
rs2227810	1.00[EUR][1000 genomes]
rs6864739	1.00[EUR][1000 genomes]
rs6868171	1.00[EUR][1000 genomes]
rs6869176	1.00[EUR][1000 genomes]
rs6872686	1.00[EUR][1000 genomes]
rs6888683	1.00[EUR][1000 genomes]
rs73131649	1.00[EUR][1000 genomes]
rs73131650	1.00[EUR][1000 genomes]
rs7708580	1.00[EUR][1000 genomes]
rs7728753	1.00[EUR][1000 genomes]
rs9918276	1.00[EUR][1000 genomes]
rs9918278	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS 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
3	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882209	chr5:76004933-76034355	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76013000-76032000	Weak transcription	HSMM	muscle
2	chr5:76013000-76033000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:76018400-76034400	Weak transcription	Left Ventricle	heart
4	chr5:76021200-76034200	Weak transcription	HepG2	liver
5	chr5:76026200-76031800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:76026200-76033200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:76026200-76034600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:76026400-76031800	Weak transcription	Fetal Heart	heart
9	chr5:76026400-76031800	Weak transcription	NHEK	skin
10	chr5:76026400-76034200	Weak transcription	Small Intestine	intestine
11	chr5:76026400-76042800	Weak transcription	Right Atrium	heart
12	chr5:76026600-76031200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:76026800-76031800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:76026800-76034800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr5:76027200-76034200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:76028200-76031200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:76028200-76031200	Strong transcription	Osteobl	bone
18	chr5:76028800-76031800	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:76028800-76033600	Weak transcription	Lung	lung
20	chr5:76028800-76034200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr5:76028800-76034800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:76029000-76034600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:76029000-76034800	Weak transcription	Adipose Nuclei	Adipose
24	chr5:76029200-76031600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:76029200-76031800	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:76029200-76031800	Weak transcription	Spleen	Spleen
27	chr5:76029200-76032000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:76029200-76034400	Weak transcription	Fetal Intestine Small	intestine
29	chr5:76029200-76034600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:76029200-76034600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:76029200-76034600	Weak transcription	Fetal Stomach	stomach
32	chr5:76029200-76034800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr5:76029200-76034800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:76029200-76035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:76029600-76031600	Weak transcription	K562	blood
36	chr5:76029600-76032000	Weak transcription	Fetal Kidney	kidney
37	chr5:76029600-76032800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:76029600-76033000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:76030000-76034800	Weak transcription	HMEC	breast
40	chr5:76030000-76040200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr5:76030200-76031800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:76030200-76031800	Weak transcription	Aorta	Aorta
43	chr5:76030200-76031800	Weak transcription	Brain Germinal Matrix	brain
44	chr5:76030200-76032000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:76030200-76033000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr5:76030200-76033000	Weak transcription	Fetal Lung	lung
47	chr5:76030400-76031600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:76030400-76031600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr5:76030400-76031600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:76030400-76031600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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