Variant report

Variant	rs72985298
Chromosome Location	chr3:136556174-136556175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136554235..136556505-chr3:136559214..136561778,2	K562	blood:
2	chr3:136554139..136557282-chr3:136559965..136563273,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58079307	1.00[AMR][1000 genomes]
rs72971469	1.00[AMR][1000 genomes]
rs72971493	1.00[AMR][1000 genomes]
rs72975365	1.00[AMR][1000 genomes]
rs72978756	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877530	chr3:136514310-136604697	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	n/a
2	nsv877531	chr3:136517016-136662954	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv877532	chr3:136526939-136662603	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv877533	chr3:136539689-136662954	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136550600-136558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:136550800-136561000	Weak transcription	Thymus	Thymus
3	chr3:136551000-136557600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:136551600-136574000	Weak transcription	HepG2	liver
5	chr3:136552400-136557400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:136552400-136570800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr3:136552600-136558000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:136552600-136579400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:136553400-136556800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr3:136553400-136557600	Enhancers	HUVEC	blood vessel
11	chr3:136553400-136558000	Weak transcription	Fetal Thymus	thymus
12	chr3:136553400-136560200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:136553800-136557600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr3:136554000-136558000	Weak transcription	Primary B cells from cord blood	blood
15	chr3:136554200-136556200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:136554200-136556200	Enhancers	NHDF-Ad	bronchial
17	chr3:136554200-136561000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:136554400-136557200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr3:136554400-136557400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:136554600-136556200	Enhancers	Stomach Smooth Muscle	stomach
21	chr3:136554600-136556400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:136554600-136557200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:136554600-136557400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:136554600-136559400	Enhancers	Fetal Brain Male	brain
25	chr3:136554800-136557200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:136554800-136557400	Weak transcription	Hela-S3	cervix
27	chr3:136554800-136557600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr3:136554800-136578400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:136554800-136579400	Weak transcription	Fetal Lung	lung
30	chr3:136555000-136557600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:136555000-136574000	Weak transcription	Ovary	ovary
32	chr3:136555200-136557600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr3:136555200-136557600	Genic enhancers	Dnd41	blood
34	chr3:136555200-136559200	Enhancers	Fetal Brain Female	brain
35	chr3:136555200-136561600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:136555200-136564600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr3:136555400-136556200	Enhancers	Aorta	Aorta
38	chr3:136555400-136557200	Weak transcription	A549	lung
39	chr3:136555400-136557400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr3:136555400-136557400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr3:136555400-136557600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:136555400-136557600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr3:136555400-136557600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr3:136555400-136558200	Weak transcription	Psoas Muscle	Psoas
45	chr3:136555400-136561200	Weak transcription	Fetal Intestine Small	intestine
46	chr3:136555400-136561200	Weak transcription	Fetal Muscle Leg	muscle
47	chr3:136555400-136579200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr3:136555600-136557200	Weak transcription	NH-A	brain
49	chr3:136555600-136557200	Weak transcription	Osteobl	bone
50	chr3:136555600-136557400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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