Variant report

Variant	rs189944245
Chromosome Location	chr5:74730357-74730358
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	chr5:74728841..74731298-chr5:74732916..74734821,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3325386	chr5:74729969-74730480	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74656800-74731400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:74670800-74731400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:74674400-74761400	Weak transcription	Esophagus	oesophagus
4	chr5:74677600-74734200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:74677800-74731400	Weak transcription	Aorta	Aorta
6	chr5:74678000-74730800	Weak transcription	Psoas Muscle	Psoas
7	chr5:74684000-74731200	Weak transcription	HSMMtube	muscle
8	chr5:74699600-74731200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr5:74706000-74731400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:74706200-74756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:74708400-74746000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:74709600-74732000	Weak transcription	Spleen	Spleen
13	chr5:74709600-74760200	Weak transcription	Gastric	stomach
14	chr5:74713200-74753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:74714400-74731600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:74718800-74742200	Weak transcription	Colon Smooth Muscle	Colon
17	chr5:74719000-74731400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:74721000-74731400	Weak transcription	Fetal Intestine Small	intestine
19	chr5:74721000-74731600	Weak transcription	Fetal Stomach	stomach
20	chr5:74721200-74731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:74721400-74731200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr5:74721400-74731200	Weak transcription	Ovary	ovary
23	chr5:74721400-74731400	Weak transcription	Left Ventricle	heart
24	chr5:74721400-74731400	Weak transcription	Lung	lung
25	chr5:74721400-74733400	Weak transcription	Fetal Intestine Large	intestine
26	chr5:74721400-74733400	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:74721400-74733400	Weak transcription	Small Intestine	intestine
28	chr5:74721400-74733600	Weak transcription	Right Ventricle	heart
29	chr5:74721400-74734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:74721400-74742600	Weak transcription	Thymus	Thymus
31	chr5:74721600-74731200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr5:74721600-74731200	Weak transcription	HSMM	muscle
33	chr5:74721600-74736000	Weak transcription	Primary T cells from cord blood	blood
34	chr5:74721600-74741400	Weak transcription	Fetal Lung	lung
35	chr5:74721600-74742600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:74721800-74731200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:74721800-74731200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:74721800-74734400	Weak transcription	HMEC	breast
39	chr5:74721800-74741800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:74721800-74742600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:74721800-74749600	Weak transcription	Adipose Nuclei	Adipose
42	chr5:74722000-74731200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr5:74722000-74731600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:74722000-74732200	Weak transcription	Primary B cells from cord blood	blood
45	chr5:74722000-74737400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:74722200-74730600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:74722200-74737200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:74722200-74749800	Weak transcription	Liver	Liver
49	chr5:74722600-74731200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr5:74722600-74731400	Weak transcription	GM12878-XiMat	blood

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