Variant report

Variant	rs7947416
Chromosome Location	chr11:64382806-64382807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64382637..64384423-chr11:64413492..64416001,2	MCF-7	breast:
2	chr11:64359724..64361589-chr11:64382064..64384516,2	K562	blood:
3	chr11:64330087..64331610-chr11:64382078..64384339,2	K562	blood:
4	chr11:64378729..64384620-chr11:64390425..64395491,5	K562	blood:
5	chr11:64375874..64378120-chr11:64381726..64383256,2	K562	blood:
6	chr11:64357096..64359483-chr11:64381226..64383774,2	MCF-7	breast:
7	chr11:64380600..64384034-chr11:64384345..64388589,5	K562	blood:
8	chr11:64378103..64380693-chr11:64382782..64384432,2	MCF-7	breast:
9	chr11:64382022..64384034-chr11:64386590..64389266,3	K562	blood:
10	chr11:64381148..64383692-chr11:64398093..64400350,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197891	Chromatin interaction
ENSG00000237410	Chromatin interaction
ENSG00000110076	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1207462	1.00[EUR][1000 genomes]
rs12575515	1.00[EUR][1000 genomes]
rs17159251	1.00[EUR][1000 genomes]
rs34318219	1.00[EUR][1000 genomes]
rs490720	1.00[EUR][1000 genomes]
rs539008	1.00[EUR][1000 genomes]
rs554812	1.00[EUR][1000 genomes]
rs569741	1.00[EUR][1000 genomes]
rs575081	1.00[EUR][1000 genomes]
rs58010797	1.00[EUR][1000 genomes]
rs58488481	1.00[EUR][1000 genomes]
rs6591855	1.00[EUR][1000 genomes]
rs7115265	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7124976	1.00[EUR][1000 genomes]
rs71579879	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72559736	1.00[EUR][1000 genomes]
rs73488285	1.00[EUR][1000 genomes]
rs73488288	1.00[EUR][1000 genomes]
rs73488293	1.00[EUR][1000 genomes]
rs73488297	1.00[EUR][1000 genomes]
rs73490206	1.00[EUR][1000 genomes]
rs73490261	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897692	chr11:64305452-64386526	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	esv3406752	chr11:64378476-64382974	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3381802	chr11:64381976-64385774	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv3382718	chr11:64382576-64385774	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64373600-64402200	Weak transcription	HSMMtube	muscle
2	chr11:64376000-64383200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:64376200-64383000	Enhancers	Fetal Thymus	thymus
4	chr11:64376400-64383800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:64376600-64383200	Weak transcription	Fetal Kidney	kidney
6	chr11:64376600-64386600	Weak transcription	Right Atrium	heart
7	chr11:64376600-64387000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:64376600-64387200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:64376600-64387200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:64376800-64387200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:64377400-64383400	Strong transcription	Fetal Intestine Small	intestine
12	chr11:64377400-64384000	Weak transcription	Ovary	ovary
13	chr11:64377600-64385800	Strong transcription	Fetal Stomach	stomach
14	chr11:64377600-64387000	Strong transcription	Fetal Brain Female	brain
15	chr11:64377800-64386200	Strong transcription	Brain Germinal Matrix	brain
16	chr11:64378000-64386000	Weak transcription	Fetal Intestine Large	intestine
17	chr11:64379600-64385600	Weak transcription	Pancreas	Pancrea
18	chr11:64379800-64385800	Weak transcription	Liver	Liver
19	chr11:64380000-64386200	Weak transcription	Spleen	Spleen
20	chr11:64380000-64387000	Weak transcription	Right Ventricle	heart
21	chr11:64380000-64396800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:64380400-64385600	Strong transcription	Fetal Muscle Trunk	muscle
23	chr11:64380600-64383600	Weak transcription	HSMM	muscle
24	chr11:64380600-64385000	Strong transcription	Aorta	Aorta
25	chr11:64380600-64385400	Strong transcription	Fetal Lung	lung
26	chr11:64380600-64385600	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr11:64380800-64385800	Strong transcription	Fetal Muscle Leg	muscle
28	chr11:64380800-64386400	Strong transcription	Brain Hippocampus Middle	brain
29	chr11:64380800-64387000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:64380800-64390800	Weak transcription	Esophagus	oesophagus
31	chr11:64380800-64396600	Weak transcription	NHDF-Ad	bronchial
32	chr11:64381000-64383000	Weak transcription	Brain Angular Gyrus	brain
33	chr11:64381000-64383000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:64381200-64385800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:64382000-64387200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:64382200-64385200	Strong transcription	Brain Substantia Nigra	brain
37	chr11:64382400-64383400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:64382400-64385000	Strong transcription	Brain Anterior Caudate	brain
39	chr11:64382400-64386000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:64382400-64386200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:64382400-64387200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:64382600-64383400	Strong transcription	Colon Smooth Muscle	Colon
43	chr11:64382600-64384400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:64382600-64385800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:64382600-64386000	Strong transcription	Osteobl	bone
46	chr11:64382600-64387400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:64382600-64387400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:64382800-64384400	Strong transcription	Rectal Smooth Muscle	rectum
49	chr11:64382800-64385000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:64382800-64385800	Strong transcription	Fetal Brain Male	brain

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