Variant report

Variant	rs2956979
Chromosome Location	chr11:57453455-57453456
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	chr11:57438163..57444248-chr11:57452144..57456576,5	K562	blood:
2	chr11:57445681..57449691-chr11:57451259..57453797,4	K562	blood:

Variant related genes	Relation type
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10896641	0.80[AFR][1000 genomes]
rs11229097	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11570214	0.81[AFR][1000 genomes]
rs12284270	0.82[AFR][1000 genomes]
rs2911726	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926657	0.84[AFR][1000 genomes]
rs2969934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57436600-57479000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:57437400-57458000	Weak transcription	Fetal Heart	heart
3	chr11:57438600-57464600	Strong transcription	Fetal Brain Female	brain
4	chr11:57438600-57469400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr11:57438600-57478200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:57438800-57464600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:57438800-57469600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr11:57438800-57473800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr11:57439000-57469400	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr11:57439000-57473400	Strong transcription	Fetal Thymus	thymus
11	chr11:57439000-57477400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:57439200-57464600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:57439200-57469600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:57439400-57457400	Strong transcription	Thymus	Thymus
15	chr11:57439400-57473000	Strong transcription	Placenta	Placenta
16	chr11:57439800-57473400	Strong transcription	Fetal Muscle Leg	muscle
17	chr11:57440600-57457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:57440800-57454800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:57440800-57456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:57441000-57457200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr11:57441200-57457600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:57441200-57460600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:57442800-57472800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:57443200-57472600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:57443600-57458400	Strong transcription	Dnd41	blood
26	chr11:57445400-57454200	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr11:57445600-57454800	Weak transcription	Spleen	Spleen
28	chr11:57445800-57456200	Weak transcription	Fetal Brain Male	brain
29	chr11:57446600-57474200	Strong transcription	Fetal Intestine Large	intestine
30	chr11:57446800-57453600	Strong transcription	A549	lung
31	chr11:57446800-57464600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:57447000-57473800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:57447800-57474200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:57448000-57472800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:57448000-57473200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:57448200-57458400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:57448200-57474400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:57448400-57457800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr11:57448400-57464600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:57448400-57472600	Strong transcription	Liver	Liver
41	chr11:57448400-57472600	Strong transcription	Lung	lung
42	chr11:57448400-57472600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:57448400-57472800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:57448400-57472800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr11:57448400-57473800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr11:57448600-57457400	Weak transcription	Stomach Mucosa	stomach
47	chr11:57448600-57464600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr11:57448600-57469800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:57448600-57476400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:57448800-57453800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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