Variant report

Variant	rs6861214
Chromosome Location	chr5:90172331-90172332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90171076..90172753-chr5:90174231..90176185,2	K562	blood:
2	chr5:90161853..90166366-chr5:90170217..90173249,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10942614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10942615	0.87[CEU][hapmap];0.88[CHB][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10942616	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10942617	0.82[CEU][hapmap]
rs11948100	0.85[CEU][hapmap];0.82[ASN][1000 genomes]
rs1818350	0.82[CEU][hapmap]
rs4382198	0.85[CEU][hapmap];0.80[JPT][hapmap]
rs4916692	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4916824	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4916825	0.82[ASN][1000 genomes]
rs58884460	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6893164	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[EUR][1000 genomes];0.87[ASN][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv882367	chr5:89956991-90209824	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90112000-90175800	Weak transcription	Fetal Brain Female	brain
2	chr5:90151800-90174000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:90151800-90174600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:90163600-90194400	Weak transcription	Pancreas	Pancrea
5	chr5:90164400-90174400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:90164400-90174800	Enhancers	Liver	Liver
7	chr5:90165400-90188800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:90166400-90174000	Weak transcription	K562	blood
9	chr5:90166600-90174600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:90167800-90173200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:90168200-90186000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:90169000-90174200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:90169200-90172400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:90169200-90173000	Weak transcription	Stomach Mucosa	stomach
15	chr5:90169200-90174000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:90169200-90174000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:90169200-90174200	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:90169200-90174600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:90169600-90174000	Weak transcription	Psoas Muscle	Psoas
20	chr5:90170000-90173000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:90170000-90173800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:90170200-90174200	Weak transcription	Ovary	ovary
23	chr5:90171200-90172600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:90171200-90172600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:90171200-90172800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:90171200-90172800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:90171200-90173400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr5:90171400-90172400	Enhancers	A549	lung
29	chr5:90171400-90172600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:90171400-90173000	Enhancers	Small Intestine	intestine
31	chr5:90171400-90173400	Enhancers	HepG2	liver
32	chr5:90171400-90175000	Enhancers	Fetal Lung	lung
33	chr5:90171600-90172400	Weak transcription	Fetal Kidney	kidney
34	chr5:90171600-90173000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:90171600-90177600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:90171800-90172800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr5:90171800-90173000	Enhancers	Fetal Intestine Small	intestine
38	chr5:90172200-90172400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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