Variant report

Variant	rs34518627
Chromosome Location	chr3:99628352-99628353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99627181..99629035-chr3:99632871..99635218,2	MCF-7	breast:
2	chr3:99594614..99596231-chr3:99626754..99629032,2	MCF-7	breast:
3	chr3:99622083..99624890-chr3:99625118..99628705,4	MCF-7	breast:
4	chr3:99626736..99629187-chr3:99773539..99775564,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168386	Chromatin interaction

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

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

rs_ID	r²[population]
rs12490054	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28848318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4928216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv3324951	chr3:99626762-99631260	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv3505014	chr3:99628037-99630635	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	esv988265	chr3:99628303-99630006	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv3358022	chr3:99628309-99630115	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99600800-99638600	Weak transcription	Left Ventricle	heart
2	chr3:99604600-99648200	Weak transcription	Primary T cells from cord blood	blood
3	chr3:99616000-99631200	Weak transcription	Primary B cells from cord blood	blood
4	chr3:99619600-99644400	Weak transcription	Right Ventricle	heart
5	chr3:99620000-99629800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:99620000-99638600	Weak transcription	Small Intestine	intestine
7	chr3:99620800-99628400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:99620800-99628600	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:99621200-99638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:99621400-99628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:99621400-99628600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:99621400-99629800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:99621600-99628600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:99623000-99628600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:99623000-99628600	Weak transcription	HUVEC	blood vessel
16	chr3:99623000-99629600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:99623200-99628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:99623200-99629400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:99624200-99628800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:99624800-99628600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:99624800-99628600	Weak transcription	NHDF-Ad	bronchial
22	chr3:99625000-99632800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:99625000-99639400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:99626200-99630000	Enhancers	HepG2	liver
25	chr3:99626600-99629000	Enhancers	Liver	Liver
26	chr3:99626800-99628600	Enhancers	A549	lung
27	chr3:99626800-99629800	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:99626800-99631200	Enhancers	NHEK	skin
29	chr3:99627200-99628600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr3:99627200-99630000	Enhancers	Hela-S3	cervix
31	chr3:99627200-99630600	Enhancers	Stomach Mucosa	stomach
32	chr3:99627200-99638600	Weak transcription	K562	blood
33	chr3:99627400-99628800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:99627400-99629200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:99627800-99631200	Enhancers	HMEC	breast
36	chr3:99628000-99629800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr3:99628000-99630600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:99628000-99631200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:99628200-99628800	Enhancers	Psoas Muscle	Psoas
40	chr3:99628200-99629000	Enhancers	HSMM	muscle
41	chr3:99628200-99629400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr3:99628200-99629600	Weak transcription	HSMMtube	muscle
43	chr3:99628200-99629800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:99628200-99630400	Weak transcription	Fetal Kidney	kidney
45	chr3:99628200-99630600	Enhancers	Osteobl	bone

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