Variant report

Variant	rs73407394
Chromosome Location	chr7:100227369-100227370
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:100226786-100227490	A549	lung:	n/a	n/a
2	CTCF	chr7:100226755-100227438	SK-N-SH	brain:	n/a	n/a
3	ELF1	chr7:100226819-100227379	GM12878	blood:	n/a	n/a
4	CTCF	chr7:100227220-100227370	A549	lung:	n/a	n/a
5	CTCF	chr7:100227280-100227430	HCM	heart:	n/a	n/a
6	CTCF	chr7:100226753-100227396	HCT-116	colon:	n/a	n/a
7	RAD21	chr7:100226768-100227380	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr7:100227280-100227430	HFF-Myc	foreskin:	n/a	n/a
9	POLR2A	chr7:100226787-100227412	K562	blood:	n/a	n/a
10	RAD21	chr7:100226807-100227461	HCT-116	colon:	n/a	n/a
11	CTCF	chr7:100226890-100227384	MCF-7	breast:	n/a	n/a
12	CTCF	chr7:100226842-100227422	MCF-7	breast:	n/a	n/a
13	RAD21	chr7:100226825-100227423	HCT-116	colon:	n/a	n/a
14	CTCF	chr7:100227240-100227390	RPTEC	kidney:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100226702..100228468-chr7:100230011..100232734,2	MCF-7	breast:
2	chr7:100224003..100228660-chr7:100236463..100240188,8	K562	blood:
3	chr7:100161531..100162128-chr7:100226667..100227635,2	MCF-7	breast:
4	chr7:100218425..100220265-chr7:100225859..100228241,2	K562	blood:
5	chr7:100224387..100228494-chr7:100301872..100304625,4	MCF-7	breast:
6	chr7:100221959..100226920-chr7:100226941..100232803,10	K562	blood:
7	chr7:100226648..100227602-chr7:100289014..100289976,5	MCF-7	breast:
8	chr7:100222858..100232262-chr7:100269297..100275934,19	MCF-7	breast:
9	chr7:100025944..100028213-chr7:100226993..100230048,3	K562	blood:
10	chr7:100226628..100227548-chr7:100288949..100289693,4	K562	blood:
11	chr7:100222704..100226086-chr7:100226785..100232803,8	K562	blood:
12	chr7:100223071..100228603-chr7:100236890..100242224,6	K562	blood:

No data

Variant related genes	Relation type
TFR2	TF binding region
ENSG00000078487	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000106327	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57249602	0.85[AFR][1000 genomes]
rs61014202	0.85[AFR][1000 genomes]
rs61052598	0.85[AFR][1000 genomes]
rs73407326	0.85[AFR][1000 genomes]
rs73407338	0.85[AFR][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	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
3	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
4	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv888790	chr7:100200674-100232387	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
9	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100211400-100230400	Weak transcription	Pancreas	Pancrea
2	chr7:100222200-100229600	Weak transcription	Hela-S3	cervix
3	chr7:100224800-100229600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:100224800-100230400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:100224800-100230400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:100224800-100230400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:100224800-100230600	Weak transcription	Brain Angular Gyrus	brain
8	chr7:100224800-100230600	Weak transcription	Gastric	stomach
9	chr7:100224800-100230600	Weak transcription	Right Atrium	heart
10	chr7:100224800-100230600	Weak transcription	Small Intestine	intestine
11	chr7:100225000-100229200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:100225000-100230400	Weak transcription	Primary B cells from cord blood	blood
13	chr7:100225000-100230400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:100225000-100230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:100225000-100230400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:100225000-100230400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:100225000-100230400	Weak transcription	Spleen	Spleen
18	chr7:100225000-100230600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:100225000-100230600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:100225200-100229400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:100225200-100229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:100225200-100230400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:100225200-100230400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:100225200-100230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:100225200-100230400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:100225200-100230400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr7:100225200-100230400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:100225200-100230600	Weak transcription	Esophagus	oesophagus
29	chr7:100225200-100234200	Strong transcription	K562	blood
30	chr7:100225400-100230400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:100225400-100230400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:100225400-100230400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:100225600-100227800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:100225600-100230200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:100225600-100230400	Weak transcription	Primary T cells from cord blood	blood
36	chr7:100225600-100230400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:100225600-100230400	Weak transcription	Brain Germinal Matrix	brain
38	chr7:100225600-100230400	Weak transcription	Fetal Intestine Small	intestine
39	chr7:100225800-100230600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr7:100225800-100230600	Weak transcription	GM12878-XiMat	blood
41	chr7:100226000-100230400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr7:100226800-100228000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:100227000-100228000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr7:100227000-100228400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:100227000-100229400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:100227000-100229400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:100227200-100227400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:100227200-100227800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:100227200-100230400	Strong transcription	Liver	Liver
50	chr7:100227200-100237000	Weak transcription	HepG2	liver

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