Variant report

Variant	rs543189190
Chromosome Location	chr5:60631832-60631833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60454421..60471345-chr5:60622342..60633215,36	MCF-7	breast:
2	chr5:60510067..60512878-chr5:60631211..60633924,2	K562	blood:
3	chr5:60627030..60629541-chr5:60631486..60634956,3	MCF-7	breast:
4	chr5:60457454..60460257-chr5:60630674..60632720,2	K562	blood:
5	chr5:60456297..60461829-chr5:60626718..60632720,8	K562	blood:

Variant related genes	Relation type
ENSG00000130449	Chromatin interaction
ENSG00000188725	Chromatin interaction
ENSG00000251279	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv823089	chr5:60589501-60669903	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv1815974	chr5:60626344-60664356	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv598319	chr5:60626957-60636828	Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv980648	chr5:60631406-60633735	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60629600-60632200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:60630200-60636400	Weak transcription	Gastric	stomach
3	chr5:60630400-60632000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr5:60630600-60632000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:60630600-60632200	Weak transcription	Primary T cells from cord blood	blood
6	chr5:60630800-60632000	Enhancers	Pancreas	Pancrea
7	chr5:60630800-60632200	Active TSS	Fetal Brain Female	brain
8	chr5:60630800-60640000	Weak transcription	Aorta	Aorta
9	chr5:60631000-60632200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:60631000-60637000	Weak transcription	Esophagus	oesophagus
11	chr5:60631000-60644000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:60631200-60632000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:60631200-60632000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:60631200-60632000	Active TSS	HSMM	muscle
15	chr5:60631200-60632400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:60631200-60634400	Weak transcription	Stomach Mucosa	stomach
17	chr5:60631200-60635000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:60631200-60635000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr5:60631400-60632000	Genic enhancers	Muscle Satellite Cultured Cells	--
20	chr5:60631400-60632000	Weak transcription	Fetal Intestine Small	intestine
21	chr5:60631400-60632000	Enhancers	Fetal Kidney	kidney
22	chr5:60631400-60632000	Enhancers	Ovary	ovary
23	chr5:60631400-60632000	Enhancers	Right Atrium	heart
24	chr5:60631400-60632000	Enhancers	Stomach Smooth Muscle	stomach
25	chr5:60631400-60632200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:60631400-60632200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:60631400-60632400	Weak transcription	Fetal Stomach	stomach
28	chr5:60631400-60632400	Weak transcription	Psoas Muscle	Psoas
29	chr5:60631400-60632600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr5:60631400-60632800	Enhancers	Brain Angular Gyrus	brain
31	chr5:60631400-60632800	Enhancers	Brain Substantia Nigra	brain
32	chr5:60631400-60632800	Weak transcription	Fetal Intestine Large	intestine
33	chr5:60631400-60633200	Enhancers	Fetal Brain Male	brain
34	chr5:60631400-60633600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:60631400-60634400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:60631400-60635000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:60631400-60635600	Weak transcription	Fetal Lung	lung
38	chr5:60631400-60636800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:60631400-60636800	Weak transcription	Right Ventricle	heart
40	chr5:60631400-60637000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:60631400-60637000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr5:60631400-60637000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:60631400-60637000	Weak transcription	Colonic Mucosa	Colon
44	chr5:60631400-60637800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:60631400-60637800	Weak transcription	NHEK	skin
46	chr5:60631400-60639400	Weak transcription	Adipose Nuclei	Adipose
47	chr5:60631400-60639400	Weak transcription	Small Intestine	intestine
48	chr5:60631400-60640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:60631400-60640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:60631400-60640400	Weak transcription	NH-A	brain

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