Variant report

Variant	rs59391324
Chromosome Location	chr4:7053579-7053580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:7052822-7054305	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7052540..7054549-chr4:7068583..7070696,2	MCF-7	breast:
2	chr4:7047952..7049903-chr4:7053524..7056109,2	MCF-7	breast:
3	chr4:7052919..7061052-chr4:7065851..7072132,10	MCF-7	breast:
4	chr4:6906905..6908997-chr4:7051562..7054124,2	MCF-7	breast:

Variant related genes	Relation type
TADA2B	TF binding region
ENSG00000109519	Chromatin interaction
ENSG00000245748	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59204906	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73799038	1.00[EUR][1000 genomes]
rs73799050	1.00[EUR][1000 genomes]
rs73799052	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv878532	chr4:7010504-7055603	Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv878533	chr4:7032180-7063524	Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7046200-7068600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7046600-7053800	Weak transcription	A549	lung
3	chr4:7046600-7055600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:7046600-7055600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:7046600-7055800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:7046600-7062600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:7046800-7062000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:7047000-7056000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:7047000-7056200	Weak transcription	HUVEC	blood vessel
10	chr4:7047000-7057400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr4:7047000-7059600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:7047000-7061200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:7047200-7055600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:7047200-7056200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr4:7047200-7059600	Weak transcription	NH-A	brain
16	chr4:7047400-7059200	Strong transcription	Fetal Intestine Small	intestine
17	chr4:7047400-7062400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:7047600-7056400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:7047800-7055600	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr4:7047800-7056000	Weak transcription	Osteobl	bone
21	chr4:7047800-7062200	Weak transcription	Hela-S3	cervix
22	chr4:7048000-7053800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:7048000-7053800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:7048000-7054200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:7048000-7054400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr4:7048000-7057000	Weak transcription	HMEC	breast
27	chr4:7048000-7062800	Weak transcription	Fetal Kidney	kidney
28	chr4:7048400-7054000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr4:7048400-7055800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr4:7048600-7055000	Weak transcription	Fetal Lung	lung
31	chr4:7048600-7055800	Weak transcription	Aorta	Aorta
32	chr4:7048600-7061400	Weak transcription	Small Intestine	intestine
33	chr4:7048600-7062600	Weak transcription	Fetal Brain Male	brain
34	chr4:7048800-7054600	Strong transcription	Fetal Stomach	stomach
35	chr4:7048800-7055400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr4:7048800-7055800	Weak transcription	HepG2	liver
37	chr4:7048800-7056000	Weak transcription	NHDF-Ad	bronchial
38	chr4:7049000-7054600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr4:7049000-7055400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr4:7049000-7060400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr4:7049200-7053600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr4:7049200-7054000	Weak transcription	Colon Smooth Muscle	Colon
43	chr4:7049200-7054400	Weak transcription	HSMMtube	muscle
44	chr4:7049400-7053600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr4:7049400-7053600	Weak transcription	Colonic Mucosa	Colon
46	chr4:7049400-7053800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:7049400-7053800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:7049400-7055200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr4:7049400-7061400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:7049600-7054000	Weak transcription	Primary B cells from cord blood	blood

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