Variant report

Variant	rs2227777
Chromosome Location	chr5:76020200-76020201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:76009018..76015131-chr5:76017344..76021190,10	K562	blood:
2	chr5:76011844..76018485-chr5:76019035..76024574,8	K562	blood:
3	chr5:76019532..76021733-chr5:76028622..76031324,3	K562	blood:
4	chr5:76015537..76017446-chr5:76018404..76021830,3	K562	blood:

Variant related genes	Relation type
ENSG00000181104	Chromatin interaction
ENSG00000225407	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16873759	0.88[YRI][hapmap]
rs2227803	1.00[EUR][1000 genomes]
rs2227810	1.00[EUR][1000 genomes]
rs468648	0.84[LWK][hapmap];0.80[YRI][hapmap]
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[TSI][hapmap];1.00[EUR][1000 genomes]
rs7728753	1.00[EUR][1000 genomes]
rs9918276	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9918278	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv882207	chr5:75997213-76027823	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription 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
4	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
5	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76013000-76028400	Weak transcription	Aorta	Aorta
2	chr5:76013000-76032000	Weak transcription	HSMM	muscle
3	chr5:76013000-76033000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:76013800-76020400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:76013800-76023000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:76013800-76023200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:76013800-76028400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:76013800-76030800	Weak transcription	Ovary	ovary
9	chr5:76014000-76020200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:76014000-76020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:76014000-76022600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:76014000-76022600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:76014000-76023200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:76014000-76028400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:76014200-76021200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:76014200-76023800	Weak transcription	Adipose Nuclei	Adipose
17	chr5:76014200-76024200	Weak transcription	Fetal Intestine Large	intestine
18	chr5:76014400-76020400	Weak transcription	HepG2	liver
19	chr5:76014400-76020400	Weak transcription	HMEC	breast
20	chr5:76014400-76022200	Weak transcription	Brain Germinal Matrix	brain
21	chr5:76014400-76023200	Weak transcription	Fetal Kidney	kidney
22	chr5:76014400-76024800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:76014400-76025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:76014400-76025400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:76014600-76020200	Weak transcription	NHEK	skin
26	chr5:76014800-76020200	Weak transcription	Osteobl	bone
27	chr5:76014800-76022400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:76015000-76020200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:76015000-76022600	Weak transcription	Fetal Lung	lung
30	chr5:76015000-76023000	Weak transcription	Fetal Brain Male	brain
31	chr5:76015400-76020400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:76015600-76020200	Enhancers	Duodenum Mucosa	Duodenum
33	chr5:76015800-76022600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:76016800-76023800	Weak transcription	Fetal Intestine Small	intestine
35	chr5:76017000-76020800	Weak transcription	Small Intestine	intestine
36	chr5:76017000-76023000	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:76017000-76028400	Weak transcription	Spleen	Spleen
38	chr5:76017400-76021400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:76017400-76022400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr5:76017400-76022600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr5:76017800-76022400	Weak transcription	Fetal Brain Female	brain
42	chr5:76018000-76021000	Genic enhancers	HUVEC	blood vessel
43	chr5:76018200-76020800	Weak transcription	K562	blood
44	chr5:76018200-76021200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:76018400-76020200	Weak transcription	NHDF-Ad	bronchial
46	chr5:76018400-76034400	Weak transcription	Left Ventricle	heart
47	chr5:76018600-76022600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:76018600-76023000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:76018600-76025600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:76019000-76020400	Enhancers	NH-A	brain

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