Variant report

Variant	rs2554020
Chromosome Location	chr11:36442662-36442663
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:36440873..36443733-chr11:36444018..36446681,2	K562	blood:
2	chr11:36432501..36434246-chr11:36442338..36444522,2	K562	blood:
3	chr11:36440676..36443131-chr11:36444698..36447631,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10836557	1.00[AMR][1000 genomes]
rs2554019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4756313	1.00[AMR][1000 genomes]
rs4756314	1.00[AMR][1000 genomes]
rs6484851	1.00[AMR][1000 genomes]
rs6484852	1.00[AMR][1000 genomes]
rs6484853	1.00[AMR][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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
4	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:36431200-36453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
8	chr11:36432600-36452200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:36433200-36448600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:36433400-36452600	Weak transcription	Left Ventricle	heart
11	chr11:36433600-36442800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:36433800-36471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:36435000-36443200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:36435000-36443800	Weak transcription	Lung	lung
15	chr11:36435000-36447600	Weak transcription	Brain Substantia Nigra	brain
16	chr11:36435000-36448400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:36435200-36453400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:36435200-36463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:36437800-36444200	Strong transcription	Colonic Mucosa	Colon
20	chr11:36438000-36450200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:36439400-36445600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:36439600-36447000	Weak transcription	Primary B cells from cord blood	blood
23	chr11:36440600-36444600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr11:36440800-36442800	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr11:36440800-36445000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:36440800-36445200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:36440800-36452200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:36441000-36444800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:36441000-36447000	Weak transcription	Ovary	ovary
30	chr11:36441000-36447200	Weak transcription	Spleen	Spleen
31	chr11:36441000-36449400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:36441200-36447400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr11:36441400-36443600	Enhancers	NH-A	brain
34	chr11:36441400-36444000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:36441400-36444600	Enhancers	Hela-S3	cervix
36	chr11:36441600-36443000	Genic enhancers	Rectal Mucosa Donor 31	rectum
37	chr11:36441600-36443400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:36441600-36443600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:36441600-36443600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:36441600-36443600	Enhancers	HSMMtube	muscle
41	chr11:36441600-36444000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:36441600-36444000	Enhancers	Fetal Muscle Leg	muscle
43	chr11:36441600-36444400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:36441600-36445000	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr11:36441600-36445000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr11:36441800-36442800	Enhancers	Brain Hippocampus Middle	brain
47	chr11:36441800-36443400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:36441800-36443400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:36441800-36443400	Enhancers	A549	lung
50	chr11:36441800-36443600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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