Variant report

Variant	rs2957561
Chromosome Location	chr11:64403974-64403975
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:64187725-64189071..11:64402707-64415880	K562	blood:

Variant related genes	Relation type
ENSG00000231492	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1152624	1.00[AFR][1000 genomes]
rs1152625	0.90[AFR][1000 genomes]
rs1152626	1.00[AFR][1000 genomes]
rs1152630	0.93[AFR][1000 genomes]
rs1207212	0.93[AFR][1000 genomes]
rs1705361	0.90[AFR][1000 genomes]
rs2849041	0.96[AFR][1000 genomes]
rs2849042	0.90[AFR][1000 genomes]
rs948338	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
9	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
10	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
11	nsv897696	chr11:64365796-64412877	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
14	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
15	nsv555199	chr11:64394684-64408646	Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	esv3356316	chr11:64403226-64404574	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64388000-64404600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:64388600-64405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:64388800-64405400	Weak transcription	Right Atrium	heart
4	chr11:64389200-64405200	Weak transcription	Fetal Kidney	kidney
5	chr11:64389600-64404800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:64390200-64405000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:64395200-64404400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:64397400-64404200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:64397400-64406000	Weak transcription	NHDF-Ad	bronchial
10	chr11:64399800-64404400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:64400200-64408200	Weak transcription	HSMM	muscle
12	chr11:64400600-64404200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:64400600-64405000	Enhancers	Fetal Thymus	thymus
14	chr11:64401400-64405000	Weak transcription	Fetal Lung	lung
15	chr11:64401800-64404200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:64401800-64404400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr11:64401800-64405800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:64402000-64405000	Weak transcription	Primary B cells from cord blood	blood
19	chr11:64402400-64404400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:64402400-64405200	Weak transcription	Spleen	Spleen
21	chr11:64402600-64404000	Weak transcription	Brain Anterior Caudate	brain
22	chr11:64402600-64404200	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:64402600-64405200	Enhancers	Fetal Brain Male	brain
24	chr11:64402600-64405800	Weak transcription	HSMMtube	muscle
25	chr11:64402800-64404000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:64402800-64404000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:64402800-64404200	Weak transcription	Brain Angular Gyrus	brain
28	chr11:64402800-64404200	Weak transcription	Brain Substantia Nigra	brain
29	chr11:64402800-64404200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:64402800-64405200	Weak transcription	Ovary	ovary
31	chr11:64403000-64404000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:64403000-64404800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:64403000-64410400	Weak transcription	Aorta	Aorta
34	chr11:64403200-64404200	Weak transcription	Fetal Intestine Large	intestine
35	chr11:64403200-64404800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:64403200-64404800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:64403200-64405000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr11:64403200-64407400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:64403400-64404000	Weak transcription	Fetal Stomach	stomach
40	chr11:64403400-64404200	Weak transcription	Fetal Intestine Small	intestine
41	chr11:64403400-64404200	Enhancers	Fetal Muscle Trunk	muscle
42	chr11:64403400-64404400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:64403400-64404400	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:64403400-64404800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:64403400-64407000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:64403400-64407800	Weak transcription	Osteobl	bone
47	chr11:64403600-64404400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:64403600-64404400	Enhancers	Fetal Muscle Leg	muscle
49	chr11:64403800-64404000	Enhancers	Brain Germinal Matrix	brain
50	chr11:64403800-64404200	Enhancers	Fetal Brain Female	brain

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