Variant report

Variant	rs930073
Chromosome Location	chr5:115695776-115695777
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	chr5:115693595..115697814-chr5:115698835..115703078,5	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17139611	0.91[ASN][1000 genomes]
rs4921096	0.91[ASN][1000 genomes]
rs6892663	0.81[ASN][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	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115680600-115695800	Weak transcription	Ovary	ovary
2	chr5:115684400-115705800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:115684800-115697800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr5:115685200-115696800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:115686400-115697000	Weak transcription	Fetal Lung	lung
7	chr5:115686600-115697400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:115687200-115706400	Weak transcription	Liver	Liver
9	chr5:115687800-115696800	Weak transcription	Pancreas	Pancrea
10	chr5:115687800-115697000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:115688000-115696800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:115688600-115696600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:115690000-115697600	Weak transcription	Primary T cells from cord blood	blood
14	chr5:115692800-115695800	Enhancers	Fetal Heart	heart
15	chr5:115693200-115696800	Weak transcription	Fetal Intestine Small	intestine
16	chr5:115693400-115696600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:115693400-115697000	Enhancers	Fetal Muscle Leg	muscle
18	chr5:115693600-115696800	Enhancers	Right Ventricle	heart
19	chr5:115693800-115696000	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:115693800-115696000	Enhancers	Right Atrium	heart
21	chr5:115693800-115696400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr5:115693800-115696800	Enhancers	Primary hematopoietic stem cells	blood
23	chr5:115694000-115696000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr5:115694000-115696400	Enhancers	Primary B cells from cord blood	blood
25	chr5:115694000-115696600	Enhancers	Brain Angular Gyrus	brain
26	chr5:115694000-115696800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:115694200-115696400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:115694200-115696400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:115694200-115696800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr5:115694400-115696200	Enhancers	Fetal Thymus	thymus
31	chr5:115694400-115696600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:115694400-115707800	Weak transcription	Spleen	Spleen
33	chr5:115694800-115695800	Enhancers	Brain Anterior Caudate	brain
34	chr5:115694800-115696800	Enhancers	Brain Hippocampus Middle	brain
35	chr5:115694800-115696800	Enhancers	Fetal Stomach	stomach
36	chr5:115695000-115696000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr5:115695000-115696200	Enhancers	Brain Cingulate Gyrus	brain
38	chr5:115695000-115696200	Enhancers	Fetal Brain Female	brain
39	chr5:115695000-115696600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr5:115695000-115696800	Enhancers	Left Ventricle	heart
41	chr5:115695000-115697000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr5:115695000-115697000	Enhancers	GM12878-XiMat	blood
43	chr5:115695000-115697200	Enhancers	Psoas Muscle	Psoas
44	chr5:115695200-115696000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:115695200-115696000	Enhancers	Brain Substantia Nigra	brain
46	chr5:115695200-115696200	Enhancers	Lung	lung
47	chr5:115695200-115696800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr5:115695200-115696800	Enhancers	Fetal Muscle Trunk	muscle
49	chr5:115695200-115697000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr5:115695200-115697800	Enhancers	Fetal Brain Male	brain

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