Variant report

Variant	rs4806227
Chromosome Location	chr19:36401012-36401013
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	chr19:36389776..36392991-chr19:36393581..36401271,10	K562	blood:

Variant related genes	Relation type
ENSG00000167604	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11084834	0.87[ASN][1000 genomes]
rs11880785	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11880909	0.87[ASN][1000 genomes]
rs11881358	0.85[ASN][1000 genomes]
rs11881364	0.87[ASN][1000 genomes]
rs11881451	0.87[ASN][1000 genomes]
rs16970735	0.87[ASN][1000 genomes]
rs16970737	0.84[ASN][1000 genomes]
rs16970742	0.87[ASN][1000 genomes]
rs16970744	0.87[ASN][1000 genomes]
rs17173033	0.96[EUR][1000 genomes]
rs172985	0.87[ASN][1000 genomes]
rs17549166	0.88[ASN][1000 genomes]
rs2227909	0.87[ASN][1000 genomes]
rs2228998	0.81[ASN][1000 genomes]
rs230262	0.87[ASN][1000 genomes]
rs230263	0.87[ASN][1000 genomes]
rs230264	0.87[ASN][1000 genomes]
rs230265	0.87[ASN][1000 genomes]
rs230266	0.87[ASN][1000 genomes]
rs230267	0.87[ASN][1000 genomes]
rs230268	0.85[ASN][1000 genomes]
rs230269	0.87[ASN][1000 genomes]
rs2871778	0.87[ASN][1000 genomes]
rs55797913	0.87[ASN][1000 genomes]
rs55816190	0.87[ASN][1000 genomes]
rs57053076	0.87[ASN][1000 genomes]
rs57068163	0.93[AFR][1000 genomes]
rs57113091	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57668132	0.87[ASN][1000 genomes]
rs57911093	0.81[ASN][1000 genomes]
rs58109577	0.87[ASN][1000 genomes]
rs58422001	0.84[EUR][1000 genomes]
rs59123406	0.89[ASN][1000 genomes]
rs59658571	0.87[ASN][1000 genomes]
rs60268250	0.87[ASN][1000 genomes]
rs60869994	0.87[ASN][1000 genomes]
rs61623584	0.87[ASN][1000 genomes]
rs7251879	0.92[EUR][1000 genomes]
rs7258214	0.88[EUR][1000 genomes]
rs73599546	0.90[AFR][1000 genomes]
rs8110868	0.93[AFR][1000 genomes]
rs8111209	0.87[ASN][1000 genomes]
rs8111348	0.87[ASN][1000 genomes]
rs8113704	0.92[EUR][1000 genomes]
rs9749325	0.87[ASN][1000 genomes]
rs9749492	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36394800-36404000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:36395000-36402800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:36395600-36401600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr19:36397600-36401200	Weak transcription	Osteobl	bone
5	chr19:36398400-36402800	Weak transcription	A549	lung
6	chr19:36399000-36406600	Enhancers	Primary B cells from peripheral blood	blood
7	chr19:36399200-36402800	Weak transcription	Pancreas	Pancrea
8	chr19:36399400-36402800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr19:36400000-36403200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:36400200-36402400	Weak transcription	Liver	Liver
11	chr19:36400200-36402800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:36400200-36403200	Enhancers	Primary B cells from cord blood	blood
13	chr19:36400600-36402200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr19:36400800-36402200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr19:36400800-36402200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr19:36400800-36402200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:36400800-36402200	Weak transcription	Spleen	Spleen
18	chr19:36400800-36402400	Enhancers	Primary hematopoietic stem cells	blood
19	chr19:36400800-36402400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:36400800-36402800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr19:36400800-36404600	Enhancers	GM12878-XiMat	blood
22	chr19:36400800-36406800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr19:36400800-36407600	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr19:36400800-36413400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:36401000-36402200	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr19:36401000-36402200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr19:36401000-36402200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr19:36401000-36402200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr19:36401000-36402200	Weak transcription	Fetal Thymus	thymus
30	chr19:36401000-36402800	Weak transcription	K562	blood
31	chr19:36401000-36403200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:36401000-36403200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr19:36401000-36405800	Enhancers	Monocytes-CD14+_RO01746	blood

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