Variant report

Variant	rs1809888
Chromosome Location	chr12:32495198-32495199
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	chr12:32492207..32495793-chr12:32495983..32500646,4	K562	blood:

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

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

rs_ID	r²[population]
rs11051926	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051933	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11051948	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11051949	0.84[AMR][1000 genomes]
rs11051951	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051954	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051955	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051956	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051958	0.83[EUR][1000 genomes]
rs12578848	0.83[EUR][1000 genomes]
rs12580872	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16919802	0.83[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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3353245	chr12:32494335-32496183	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32460400-32514600	Weak transcription	HMEC	breast
2	chr12:32475400-32500200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:32475600-32532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:32475800-32495800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:32475800-32502200	Weak transcription	Brain Substantia Nigra	brain
6	chr12:32475800-32512200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:32476400-32505600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:32476400-32515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:32477200-32500800	Weak transcription	Hela-S3	cervix
10	chr12:32478800-32498800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:32479200-32502200	Weak transcription	NHDF-Ad	bronchial
12	chr12:32479200-32504200	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:32479400-32501200	Weak transcription	Fetal Brain Male	brain
14	chr12:32480600-32524800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:32481400-32511800	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:32481600-32496600	Weak transcription	Brain Anterior Caudate	brain
17	chr12:32481600-32497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:32481600-32501800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:32481800-32495800	Weak transcription	Left Ventricle	heart
20	chr12:32482000-32496000	Weak transcription	HSMM	muscle
21	chr12:32484400-32515600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:32484800-32496200	Weak transcription	A549	lung
23	chr12:32485800-32520000	Weak transcription	Fetal Kidney	kidney
24	chr12:32486000-32510800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:32486800-32496400	Weak transcription	HUVEC	blood vessel
26	chr12:32487200-32502400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:32489200-32498600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:32490000-32496600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:32490600-32495600	Weak transcription	NHEK	skin
30	chr12:32490800-32497200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:32490800-32497800	Weak transcription	Spleen	Spleen
32	chr12:32490800-32498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:32490800-32499800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:32490800-32518600	Weak transcription	Fetal Intestine Small	intestine
35	chr12:32492000-32503800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:32492200-32495400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:32492200-32496400	Weak transcription	Dnd41	blood
38	chr12:32492200-32498600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:32492200-32502600	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:32492200-32505200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr12:32492200-32514000	Weak transcription	Aorta	Aorta
42	chr12:32492200-32514200	Weak transcription	Lung	lung
43	chr12:32492200-32518600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:32492200-32518600	Weak transcription	Brain Germinal Matrix	brain
45	chr12:32492200-32522000	Weak transcription	Fetal Stomach	stomach
46	chr12:32492200-32523800	Weak transcription	Primary T cells from cord blood	blood
47	chr12:32492200-32523800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:32492200-32527400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:32492200-32530400	Weak transcription	Thymus	Thymus
50	chr12:32492400-32495800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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