Variant report

Variant	rs11957723
Chromosome Location	chr5:114958406-114958407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114943938..114945936-chr5:114958072..114960009,2	K562	blood:
2	chr5:114934797..114939548-chr5:114953575..114961976,8	K562	blood:
3	chr5:114950269..114954273-chr5:114956632..114959836,4	MCF-7	breast:
4	chr5:114947413..114949524-chr5:114957766..114959357,2	K562	blood:
5	chr5:114919821..114922254-chr5:114958227..114960432,2	K562	blood:

Variant related genes	Relation type
ENSG00000243414	Chromatin interaction
ENSG00000249249	Chromatin interaction
ENSG00000251201	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11960574	1.00[EUR][1000 genomes]
rs55836657	1.00[EUR][1000 genomes]
rs59687356	1.00[EUR][1000 genomes]
rs60353359	1.00[EUR][1000 genomes]
rs61239464	1.00[EUR][1000 genomes]
rs61268733	1.00[EUR][1000 genomes]
rs73782716	1.00[EUR][1000 genomes]
rs73782718	1.00[EUR][1000 genomes]
rs73782721	1.00[EUR][1000 genomes]
rs73782727	1.00[EUR][1000 genomes]
rs73782728	1.00[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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS 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 target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114938200-114960200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:114938600-114960000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:114938800-114958600	Weak transcription	Right Ventricle	heart
4	chr5:114938800-114960000	Weak transcription	Lung	lung
5	chr5:114939000-114958800	Weak transcription	Fetal Stomach	stomach
6	chr5:114939000-114959200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:114939000-114960200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:114939200-114958800	Weak transcription	Spleen	Spleen
9	chr5:114941000-114959400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:114945400-114958600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:114946000-114959400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:114946200-114959400	Strong transcription	Fetal Thymus	thymus
13	chr5:114952400-114959200	Weak transcription	Brain Germinal Matrix	brain
14	chr5:114952400-114959400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:114952400-114960200	Weak transcription	Esophagus	oesophagus
16	chr5:114952600-114958600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr5:114954400-114960200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr5:114955400-114959400	Weak transcription	Fetal Kidney	kidney
19	chr5:114955800-114958800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:114955800-114958800	Weak transcription	Psoas Muscle	Psoas
21	chr5:114956000-114958600	Weak transcription	NH-A	brain
22	chr5:114956200-114958800	Weak transcription	A549	lung
23	chr5:114956200-114959000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:114956400-114959000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:114956400-114959400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:114956400-114960000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:114956400-114960200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:114956600-114959000	Weak transcription	Placenta	Placenta
29	chr5:114956600-114959400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr5:114956600-114959600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
31	chr5:114956600-114959800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:114956800-114958600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:114956800-114960000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:114957000-114958800	Enhancers	Liver	Liver
35	chr5:114957000-114959200	Enhancers	HUVEC	blood vessel
36	chr5:114957000-114959400	Enhancers	Brain Hippocampus Middle	brain
37	chr5:114957200-114958800	Genic enhancers	K562	blood
38	chr5:114957200-114959200	Enhancers	Small Intestine	intestine
39	chr5:114957200-114959600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:114957200-114960000	Enhancers	Fetal Brain Male	brain
41	chr5:114957200-114960000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr5:114957200-114960000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr5:114957400-114958600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr5:114957400-114958800	Enhancers	Fetal Brain Female	brain
45	chr5:114957400-114958800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:114957400-114959400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:114957400-114959400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:114957400-114959400	Enhancers	Pancreas	Pancrea
49	chr5:114957400-114959600	Enhancers	Adipose Nuclei	Adipose
50	chr5:114957400-114960200	Enhancers	Cortex derived primary cultured neurospheres	brain

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