Variant report

Variant	rs9998889
Chromosome Location	chr4:7066202-7066203
allele	C/G
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	chr4:7064534-7066419	HepG2	liver:	n/a	n/a
2	POLR2A	chr4:7065115-7066487	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7058331..7067210-chr4:7067664..7073138,15	MCF-7	breast:
2	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
3	chr4:6909455..6913239-chr4:7065910..7071137,7	K562	blood:
4	chr4:7052919..7061052-chr4:7065851..7072132,10	MCF-7	breast:

Variant related genes	Relation type
GRPEL1	TF binding region
ENSG00000109519	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000245748	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000173013	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16839622	1.00[EUR][1000 genomes]
rs28634454	1.00[EUR][1000 genomes]
rs28791931	1.00[EUR][1000 genomes]
rs60859019	1.00[EUR][1000 genomes]
rs6827203	1.00[EUR][1000 genomes]
rs6849868	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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:126 , 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	chr4:7049800-7066800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:7052200-7067000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:7052600-7066600	Strong transcription	Dnd41	blood
5	chr4:7053000-7066800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr4:7054400-7067000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:7054800-7067600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:7055000-7067000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr4:7055000-7068200	Weak transcription	Fetal Heart	heart
10	chr4:7055200-7067200	Strong transcription	Primary T cells from cord blood	blood
11	chr4:7055200-7068400	Strong transcription	Fetal Stomach	stomach
12	chr4:7055400-7067000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:7055400-7068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:7055600-7067800	Strong transcription	Fetal Thymus	thymus
15	chr4:7055600-7068200	Strong transcription	Fetal Muscle Leg	muscle
16	chr4:7055600-7068200	Strong transcription	Placenta	Placenta
17	chr4:7055800-7066600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:7055800-7067000	Strong transcription	Adipose Nuclei	Adipose
19	chr4:7056000-7067000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:7056200-7067200	Strong transcription	Lung	lung
21	chr4:7056400-7068200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:7057000-7068200	Strong transcription	Osteobl	bone
23	chr4:7057400-7068400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:7057600-7067200	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr4:7057800-7067600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr4:7059600-7066800	Strong transcription	HUVEC	blood vessel
27	chr4:7059600-7067000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr4:7059600-7067200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:7059600-7067800	Strong transcription	NHEK	skin
30	chr4:7059600-7068400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr4:7060000-7067000	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr4:7060200-7066400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:7060200-7067000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr4:7060200-7067000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:7060200-7067000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:7060200-7067000	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr4:7060200-7067000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:7060200-7067200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:7060400-7066600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr4:7060400-7066800	Strong transcription	K562	blood
41	chr4:7060400-7067000	Strong transcription	Fetal Intestine Large	intestine
42	chr4:7060400-7067000	Strong transcription	Left Ventricle	heart
43	chr4:7060400-7067200	Strong transcription	HMEC	breast
44	chr4:7060400-7067600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:7060600-7066800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:7060600-7066800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr4:7060600-7066800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:7060600-7066800	Strong transcription	Ovary	ovary
49	chr4:7060600-7067000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:7060600-7067000	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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