Variant report

Variant	rs73479704
Chromosome Location	chr7:149424518-149424519
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	FOXA1	chr7:149424218-149424519	T-47D	breast:	n/a	n/a
2	POLR2A	chr7:149424453-149425018	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:149423917..149425627-chr7:149437356..149439269,2	MCF-7	breast:
2	chr7:149415554..149419677-chr7:149423548..149428331,6	K562	blood:
3	chr7:149388763..149391168-chr7:149424298..149425828,2	K562	blood:

Variant related genes	Relation type
KRBA1	TF binding region
ENSG00000133619	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10234233	1.00[EUR][1000 genomes]
rs10242675	1.00[EUR][1000 genomes]
rs10260189	1.00[EUR][1000 genomes]
rs10266493	1.00[EUR][1000 genomes]
rs10277494	1.00[EUR][1000 genomes]
rs28400384	1.00[EUR][1000 genomes]
rs28436075	1.00[EUR][1000 genomes]
rs28451340	1.00[EUR][1000 genomes]
rs28465476	1.00[EUR][1000 genomes]
rs28830018	1.00[EUR][1000 genomes]
rs61301114	0.82[ASN][1000 genomes]
rs6965523	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7455171	0.89[ASN][1000 genomes]
rs7799865	1.00[EUR][1000 genomes]
rs7805294	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats 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 target site	39 gene(s)	inside rSNPs	diseases
3	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer 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 target site	31 gene(s)	inside rSNPs	diseases
7	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv465199	chr7:149398065-149462621	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv608979	chr7:149398065-149462621	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149412800-149438800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:149413000-149433200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:149413200-149426200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:149413200-149432000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:149413200-149433600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:149413400-149424600	Weak transcription	HUVEC	blood vessel
7	chr7:149413400-149433400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:149414000-149430200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:149414800-149438800	Weak transcription	Fetal Brain Male	brain
10	chr7:149416000-149431200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:149416000-149431400	Strong transcription	Ovary	ovary
12	chr7:149416000-149431600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:149416000-149431800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:149416000-149432000	Strong transcription	Fetal Intestine Small	intestine
15	chr7:149416000-149432400	Strong transcription	Primary T cells from cord blood	blood
16	chr7:149416000-149432800	Strong transcription	Fetal Brain Female	brain
17	chr7:149416200-149431000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:149416400-149432200	Strong transcription	Brain Germinal Matrix	brain
19	chr7:149416600-149430400	Strong transcription	Spleen	Spleen
20	chr7:149416600-149431400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:149416600-149431600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:149416800-149425200	Strong transcription	Esophagus	oesophagus
23	chr7:149416800-149431000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:149416800-149431400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:149416800-149431800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:149417000-149430200	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr7:149417400-149431400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:149417400-149431400	Strong transcription	Thymus	Thymus
29	chr7:149417600-149432000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:149417600-149432800	Strong transcription	Fetal Stomach	stomach
31	chr7:149417600-149438800	Weak transcription	GM12878-XiMat	blood
32	chr7:149417800-149427400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:149417800-149430800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:149417800-149431600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr7:149418000-149426400	Weak transcription	Psoas Muscle	Psoas
36	chr7:149418000-149427000	Strong transcription	Fetal Lung	lung
37	chr7:149418000-149427200	Strong transcription	Fetal Intestine Large	intestine
38	chr7:149418000-149429000	Weak transcription	NHDF-Ad	bronchial
39	chr7:149418000-149430400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:149418000-149430400	Strong transcription	Lung	lung
41	chr7:149418000-149430800	Strong transcription	Aorta	Aorta
42	chr7:149418000-149431000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr7:149418000-149431000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:149418000-149431200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr7:149418000-149431600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:149418000-149431600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr7:149418000-149431600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:149418000-149431800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:149418000-149438800	Weak transcription	A549	lung
50	chr7:149418200-149427400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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