Variant report

Variant	rs12419221
Chromosome Location	chr11:9604208-9604209
allele	C/T
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	chr11:9600579-9604393	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:9601406-9604955	K562	blood:	n/a	n/a
3	POLR2A	chr11:9604208-9605001	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:9604016-9605118	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr11:9600697-9604836	K562	blood:	n/a	n/a
6	POLR2A	chr11:9602903-9604226	U87	brain:	n/a	n/a
7	POLR2A	chr11:9604086-9604415	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:9600678-9604729	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9602719..9605077-chr11:9625885..9628580,3	K562	blood:
2	chr11:9597023..9599212-chr11:9603843..9606476,2	MCF-7	breast:

Variant related genes	Relation type
WEE1	TF binding region
ENSG00000243964	Chromatin interaction
ENSG00000166483	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11042430	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042433	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12416887	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12422111	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35042828	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35198914	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4910480	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61876835	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9597000-9604600	Weak transcription	Lung	lung
2	chr11:9597000-9606000	Weak transcription	Small Intestine	intestine
3	chr11:9597000-9613400	Weak transcription	Gastric	stomach
4	chr11:9597000-9622000	Weak transcription	Spleen	Spleen
5	chr11:9597200-9635000	Weak transcription	Pancreas	Pancrea
6	chr11:9597600-9609600	Weak transcription	Brain Anterior Caudate	brain
7	chr11:9597600-9615200	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:9597800-9604600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:9597800-9605600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr11:9598000-9605600	Weak transcription	Stomach Mucosa	stomach
11	chr11:9598400-9612000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:9598600-9608800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:9598600-9610800	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr11:9598800-9611600	Strong transcription	Primary hematopoietic stem cells	blood
15	chr11:9599200-9606200	Weak transcription	Fetal Brain Male	brain
16	chr11:9599200-9608400	Weak transcription	Adipose Nuclei	Adipose
17	chr11:9599200-9612200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:9599400-9605800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:9599400-9606000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:9599400-9608600	Weak transcription	Psoas Muscle	Psoas
21	chr11:9599400-9610000	Weak transcription	Esophagus	oesophagus
22	chr11:9599400-9612200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:9599400-9612400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr11:9599400-9612400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:9599400-9612400	Strong transcription	Fetal Thymus	thymus
26	chr11:9599600-9605800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:9599600-9606000	Weak transcription	Right Ventricle	heart
28	chr11:9599600-9607800	Weak transcription	Primary T cells from cord blood	blood
29	chr11:9599600-9608000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:9599600-9609800	Weak transcription	Colonic Mucosa	Colon
31	chr11:9599600-9610000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:9599600-9610600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:9599600-9611200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:9599600-9622800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:9599800-9607600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:9599800-9612400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:9599800-9617000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:9599800-9622400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:9600000-9611600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:9600000-9612000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:9600000-9612400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:9600200-9604600	Strong transcription	Hela-S3	cervix
43	chr11:9600200-9608200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr11:9600200-9612000	Strong transcription	Osteobl	bone
45	chr11:9600200-9612600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr11:9600200-9612600	Strong transcription	HUVEC	blood vessel
47	chr11:9600200-9613400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:9600400-9604400	Strong transcription	K562	blood
49	chr11:9600400-9612400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:9600400-9612600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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