Variant report

Variant	rs12418784
Chromosome Location	chr11:36412911-36412912
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	chr11:36409984..36413042-chr11:36415048..36418342,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10836544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11608110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12421636	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12421645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72950073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72950076	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72950079	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72950084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72950090	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400000-36415600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:36400000-36425200	Weak transcription	Fetal Kidney	kidney
3	chr11:36400000-36425600	Weak transcription	HUVEC	blood vessel
4	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:36400600-36431200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:36401000-36420200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:36402000-36424200	Weak transcription	Left Ventricle	heart
9	chr11:36402000-36431800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:36403000-36415400	Weak transcription	NHEK	skin
11	chr11:36403000-36417800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:36403000-36438200	Weak transcription	Ovary	ovary
13	chr11:36404200-36415400	Weak transcription	Colonic Mucosa	Colon
14	chr11:36404600-36415400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:36405000-36417800	Weak transcription	HMEC	breast
16	chr11:36406800-36415400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:36407400-36415400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:36407400-36415600	Weak transcription	NH-A	brain
20	chr11:36407400-36417600	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:36407400-36425800	Weak transcription	Small Intestine	intestine
22	chr11:36407600-36413800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:36407800-36417800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:36408200-36415400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:36408400-36413200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr11:36408400-36433000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:36408800-36415400	Weak transcription	Fetal Intestine Large	intestine
28	chr11:36409000-36413400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:36409400-36419600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:36409800-36430000	Weak transcription	Liver	Liver
31	chr11:36410000-36415400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:36410200-36417400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:36411000-36415000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:36411000-36415200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:36411000-36415400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:36411000-36415400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:36411400-36413400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:36411400-36414000	Enhancers	Brain Substantia Nigra	brain
39	chr11:36411600-36413800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr11:36411600-36414400	Enhancers	Primary B cells from peripheral blood	blood
41	chr11:36411600-36415400	Weak transcription	Fetal Intestine Small	intestine
42	chr11:36411800-36413000	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:36411800-36413000	Enhancers	Spleen	Spleen
44	chr11:36411800-36413000	Enhancers	HSMM	muscle
45	chr11:36411800-36413200	Enhancers	GM12878-XiMat	blood
46	chr11:36411800-36413400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:36411800-36413600	Enhancers	Brain Hippocampus Middle	brain
48	chr11:36411800-36413800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:36411800-36414200	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:36411800-36416800	Enhancers	Primary T helper cells PMA-I stimulated	--

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