Variant report

Variant	rs369179630
Chromosome Location	chr5:98241868-98241869
allele	C/T
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	chr5:98241174..98243544-chr5:98361759..98364961,3	K562	blood:
2	chr5:98241328..98242320-chr5:98395720..98396727,8	K562	blood:
3	chr5:98238981..98243002-chr5:98262998..98267488,6	MCF-7	breast:
4	chr5:98235646..98238054-chr5:98241311..98244190,2	K562	blood:
5	chr5:98240910..98242219-chr5:98367905..98368817,11	MCF-7	breast:
6	chr5:98241653..98244052-chr5:98264053..98266150,4	MCF-7	breast:
7	chr5:98241310..98242211-chr5:98395923..98396741,3	MCF-7	breast:
8	chr5:98241190..98242629-chr5:98367641..98368871,16	K562	blood:
9	chr5:98239512..98242254-chr5:98395636..98397336,2	K562	blood:
10	chr5:98241392..98242207-chr5:98367928..98368798,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248489	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv537818	chr5:98241627-98279192	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98188400-98247000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:98190400-98243800	Strong transcription	Dnd41	blood
3	chr5:98200000-98263000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:98215000-98263000	Weak transcription	Esophagus	oesophagus
5	chr5:98222000-98247000	Weak transcription	Fetal Heart	heart
6	chr5:98225800-98258400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:98228200-98259200	Weak transcription	Spleen	Spleen
8	chr5:98228400-98259200	Weak transcription	Gastric	stomach
9	chr5:98228400-98259400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:98228400-98263000	Weak transcription	Aorta	Aorta
11	chr5:98232000-98243800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:98232000-98247000	Weak transcription	Right Ventricle	heart
13	chr5:98232000-98254200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:98232000-98258200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:98232000-98259200	Weak transcription	Pancreas	Pancrea
16	chr5:98233600-98245200	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:98235000-98247000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:98235000-98262600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:98235200-98261600	Weak transcription	Fetal Kidney	kidney
20	chr5:98235400-98262600	Weak transcription	Fetal Brain Male	brain
21	chr5:98236000-98256800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:98236400-98256600	Weak transcription	Lung	lung
23	chr5:98236400-98258400	Weak transcription	Brain Germinal Matrix	brain
24	chr5:98236400-98263200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:98236600-98243800	Weak transcription	Thymus	Thymus
26	chr5:98236600-98247000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr5:98236600-98248000	Weak transcription	Fetal Intestine Small	intestine
28	chr5:98236600-98248000	Weak transcription	Fetal Stomach	stomach
29	chr5:98236600-98249600	Weak transcription	Psoas Muscle	Psoas
30	chr5:98236600-98257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:98236600-98259000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:98236600-98261000	Weak transcription	Small Intestine	intestine
33	chr5:98236600-98261600	Weak transcription	Fetal Brain Female	brain
34	chr5:98236600-98263000	Weak transcription	Ovary	ovary
35	chr5:98236800-98246400	Weak transcription	Brain Anterior Caudate	brain
36	chr5:98236800-98247000	Weak transcription	Brain Angular Gyrus	brain
37	chr5:98236800-98248000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:98236800-98249800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:98236800-98253600	Weak transcription	Left Ventricle	heart
40	chr5:98236800-98254000	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:98236800-98256000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:98236800-98263000	Weak transcription	Brain Substantia Nigra	brain
43	chr5:98237000-98245200	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:98237000-98248000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:98237000-98252800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr5:98237000-98256000	Weak transcription	HSMMtube	muscle
47	chr5:98237000-98258600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr5:98237000-98259200	Weak transcription	Colonic Mucosa	Colon
49	chr5:98237200-98242000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:98238000-98245200	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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