Variant report

Variant	rs28673107
Chromosome Location	chr3:49128078-49128079
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49127010..49128882-chr3:49140986..49143240,2	MCF-7	breast:
2	chr3:49064960..49067040-chr3:49125251..49128695,4	MCF-7	breast:
3	chr3:49052218..49068794-chr3:49126865..49133927,44	K562	blood:
4	chr3:49124027..49128766-chr3:49129255..49132743,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178057	Chromatin interaction
ENSG00000199032	Chromatin interaction
ENSG00000198218	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000172053	Chromatin interaction
ENSG00000272434	Chromatin interaction
ENSG00000178035	Chromatin interaction
ENSG00000207605	Chromatin interaction

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

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

rs_ID	r²[population]
rs11540500	1.00[CHD][hapmap]
rs35867420	1.00[CHD][hapmap]
rs9865051	1.00[CHD][hapmap]

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	nsv876764	chr3:49040462-49245645	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	279 gene(s)	inside rSNPs	diseases
2	nsv834686	chr3:49106047-49270556	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv876765	chr3:49119063-49160671	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49066800-49130000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:49066800-49130200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:49094600-49128200	Weak transcription	Fetal Brain Male	brain
4	chr3:49095400-49129600	Weak transcription	Stomach Mucosa	stomach
5	chr3:49111800-49129600	Weak transcription	HSMMtube	muscle
6	chr3:49113800-49128400	Weak transcription	Small Intestine	intestine
7	chr3:49113800-49129200	Weak transcription	Psoas Muscle	Psoas
8	chr3:49114400-49128600	Weak transcription	NHLF	lung
9	chr3:49114400-49129600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:49114400-49129600	Weak transcription	Right Ventricle	heart
11	chr3:49114400-49129800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:49114400-49130000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr3:49114800-49129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:49115000-49129200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:49115000-49130200	Weak transcription	Aorta	Aorta
16	chr3:49115000-49130600	Weak transcription	Spleen	Spleen
17	chr3:49115200-49129400	Weak transcription	Fetal Brain Female	brain
18	chr3:49115200-49129600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:49115600-49128800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:49115600-49128800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:49115600-49129400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:49115600-49129600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr3:49115600-49129600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:49115600-49130000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:49115600-49130200	Weak transcription	Esophagus	oesophagus
26	chr3:49115800-49128200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:49115800-49129600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr3:49115800-49129600	Weak transcription	K562	blood
29	chr3:49116000-49128200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:49116000-49129000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr3:49116000-49129800	Weak transcription	Colonic Mucosa	Colon
32	chr3:49116800-49128600	Weak transcription	Primary T cells from cord blood	blood
33	chr3:49116800-49129000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr3:49116800-49130200	Weak transcription	Placenta	Placenta
35	chr3:49117000-49128200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:49117200-49129400	Weak transcription	NHDF-Ad	bronchial
37	chr3:49117200-49129600	Weak transcription	HSMM	muscle
38	chr3:49117200-49130000	Weak transcription	Right Atrium	heart
39	chr3:49117200-49130200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:49117200-49130200	Weak transcription	Gastric	stomach
41	chr3:49117200-49130400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:49117400-49128800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr3:49117600-49128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:49117800-49128800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:49118200-49128400	Weak transcription	Primary B cells from cord blood	blood
46	chr3:49119000-49128600	Strong transcription	Fetal Intestine Small	intestine
47	chr3:49119000-49129600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:49119200-49128800	Weak transcription	Brain Anterior Caudate	brain
49	chr3:49119200-49128800	Weak transcription	HMEC	breast
50	chr3:49119600-49130200	Weak transcription	Lung	lung

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