Variant report

Variant	rs2227757
Chromosome Location	chr5:76015260-76015261
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:76010938-76016234	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76008537..76011393-chr5:76015076..76017245,2	K562	blood:

Variant related genes	Relation type
ENSG00000225407	TF binding region

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17681908	0.80[ASN][1000 genomes]
rs2227746	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2227749	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2227753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61370375	0.86[ASN][1000 genomes]
rs61557265	0.86[ASN][1000 genomes]
rs73127576	0.80[ASN][1000 genomes]
rs73127579	0.85[ASN][1000 genomes]
rs73127582	0.91[ASN][1000 genomes]
rs73127587	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73127593	0.86[ASN][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76012800-76018000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:76013000-76028400	Weak transcription	Aorta	Aorta
3	chr5:76013000-76032000	Weak transcription	HSMM	muscle
4	chr5:76013000-76033000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:76013400-76017400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr5:76013400-76017600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:76013400-76020000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:76013600-76016800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr5:76013800-76017400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:76013800-76017400	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:76013800-76020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:76013800-76020400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:76013800-76023000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:76013800-76023200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:76013800-76028400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:76013800-76030800	Weak transcription	Ovary	ovary
17	chr5:76014000-76015600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr5:76014000-76016400	Weak transcription	Fetal Intestine Small	intestine
19	chr5:76014000-76020200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:76014000-76020600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:76014000-76022600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:76014000-76022600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:76014000-76023200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:76014000-76028400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:76014200-76016800	Weak transcription	Lung	lung
26	chr5:76014200-76018200	Weak transcription	Fetal Stomach	stomach
27	chr5:76014200-76019600	Weak transcription	A549	lung
28	chr5:76014200-76021200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:76014200-76023800	Weak transcription	Adipose Nuclei	Adipose
30	chr5:76014200-76024200	Weak transcription	Fetal Intestine Large	intestine
31	chr5:76014400-76015400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr5:76014400-76015400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:76014400-76015600	Weak transcription	K562	blood
34	chr5:76014400-76016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:76014400-76016000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:76014400-76016200	Weak transcription	Right Atrium	heart
37	chr5:76014400-76016400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:76014400-76016400	Weak transcription	Small Intestine	intestine
39	chr5:76014400-76018000	Weak transcription	Left Ventricle	heart
40	chr5:76014400-76019200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:76014400-76020400	Weak transcription	HepG2	liver
42	chr5:76014400-76020400	Weak transcription	HMEC	breast
43	chr5:76014400-76022200	Weak transcription	Brain Germinal Matrix	brain
44	chr5:76014400-76023200	Weak transcription	Fetal Kidney	kidney
45	chr5:76014400-76024800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr5:76014400-76025400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:76014400-76025400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr5:76014600-76016800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr5:76014600-76020200	Weak transcription	NHEK	skin
50	chr5:76014800-76015600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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