Variant report

Variant	rs7943508
Chromosome Location	chr11:57003581-57003582
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	chr11:57002794..57004674-chr11:57309116..57311605,2	K562	blood:

Variant related genes	Relation type
ENSG00000214872	Chromatin interaction

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

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

rs_ID	r²[population]
rs34921598	1.00[AMR][1000 genomes]
rs7120078	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120095	1.00[YRI][hapmap]
rs7128178	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129780	1.00[AMR][1000 genomes]
rs7130847	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7932705	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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56998800-57004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:56998800-57005000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:56999200-57007800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:56999800-57004800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:57001000-57004600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr11:57001000-57004600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
7	chr11:57001200-57004600	Bivalent/Poised TSS	Adipose Nuclei	Adipose
8	chr11:57001600-57003600	Active TSS	Fetal Kidney	kidney
9	chr11:57002000-57004400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
10	chr11:57002000-57004600	Active TSS	Spleen	Spleen
11	chr11:57002200-57003600	Enhancers	Fetal Lung	lung
12	chr11:57002200-57003600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:57002200-57003800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
14	chr11:57002200-57004400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:57002600-57003600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
16	chr11:57002600-57003800	Active TSS	Fetal Intestine Small	intestine
17	chr11:57002600-57004000	Active TSS	Right Atrium	heart
18	chr11:57002800-57003600	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr11:57002800-57003800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:57002800-57004000	Bivalent/Poised TSS	Placenta	Placenta
21	chr11:57002800-57004400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:57002800-57004400	Weak transcription	HSMM	muscle
23	chr11:57002800-57004600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
24	chr11:57003000-57003600	Flanking Active TSS	K562	blood
25	chr11:57003000-57003800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
26	chr11:57003000-57004000	Active TSS	Fetal Intestine Large	intestine
27	chr11:57003000-57004600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
28	chr11:57003000-57004600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr11:57003200-57003600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:57003200-57003600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr11:57003200-57003600	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr11:57003200-57004200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:57003200-57004200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr11:57003200-57004600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:57003200-57004800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:57003200-57007400	Weak transcription	HSMMtube	muscle
37	chr11:57003400-57003600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:57003400-57003600	Flanking Active TSS	Psoas Muscle	Psoas
39	chr11:57003400-57003800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:57003400-57004200	Enhancers	Gastric	stomach
41	chr11:57003400-57004200	Flanking Active TSS	Left Ventricle	heart
42	chr11:57003400-57004200	Flanking Active TSS	Right Ventricle	heart
43	chr11:57003400-57004600	Weak transcription	Fetal Brain Male	brain
44	chr11:57003400-57004800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:57003400-57005000	Active TSS	Brain Cingulate Gyrus	brain
46	chr11:57003400-57005200	Enhancers	Lung	lung
47	chr11:57003400-57005400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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