Variant report

Variant	rs56175619
Chromosome Location	chr11:36444504-36444505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36440873..36443733-chr11:36444018..36446681,2	K562	blood:
2	chr11:36432501..36434246-chr11:36442338..36444522,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs331484	0.91[EUR][1000 genomes]
rs55928072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484854	0.88[EUR][1000 genomes]
rs744894	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs890264	0.85[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	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:78 , 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	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
3	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:36431200-36453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
7	chr11:36432600-36452200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:36433200-36448600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:36433400-36452600	Weak transcription	Left Ventricle	heart
10	chr11:36433800-36471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:36435000-36447600	Weak transcription	Brain Substantia Nigra	brain
12	chr11:36435000-36448400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:36435200-36453400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:36435200-36463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:36438000-36450200	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:36439400-36445600	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:36439600-36447000	Weak transcription	Primary B cells from cord blood	blood
18	chr11:36440600-36444600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr11:36440800-36445000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:36440800-36445200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr11:36440800-36452200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:36441000-36444800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr11:36441000-36447000	Weak transcription	Ovary	ovary
24	chr11:36441000-36447200	Weak transcription	Spleen	Spleen
25	chr11:36441000-36449400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr11:36441200-36447400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:36441400-36444600	Enhancers	Hela-S3	cervix
28	chr11:36441600-36445000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr11:36441600-36445000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr11:36442200-36451800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:36442600-36449400	Weak transcription	Right Atrium	heart
32	chr11:36442600-36451200	Weak transcription	NHEK	skin
33	chr11:36442600-36462200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:36442800-36447200	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:36443000-36447400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr11:36443000-36453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:36443400-36446800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:36443400-36447000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:36443400-36447000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr11:36443400-36448200	Weak transcription	A549	lung
41	chr11:36443600-36445000	Weak transcription	HSMMtube	muscle
42	chr11:36443600-36445800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr11:36443600-36447000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr11:36443600-36448000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:36443600-36448600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:36443600-36449200	Weak transcription	HMEC	breast
47	chr11:36443600-36451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:36443600-36451800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:36443600-36452600	Weak transcription	NHDF-Ad	bronchial
50	chr11:36443600-36453200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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