Variant report

Variant	rs57249602
Chromosome Location	chr7:100193479-100193480
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100193442..100195909-chr7:100285577..100288425,2	MCF-7	breast:
2	chr7:100191377..100195443-chr7:100198658..100203680,7	K562	blood:
3	chr7:100191442..100194246-chr7:100208533..100210094,2	K562	blood:
4	chr7:100184228..100187733-chr7:100192595..100194405,3	MCF-7	breast:
5	chr7:100191640..100194226-chr7:100194621..100197641,3	K562	blood:
6	chr7:100192016..100194467-chr7:100330955..100333503,2	K562	blood:
7	chr7:100026441..100028379-chr7:100192875..100194997,2	MCF-7	breast:
8	chr7:100182147..100186968-chr7:100192641..100197683,8	K562	blood:
9	chr7:100187959..100190105-chr7:100192749..100194367,2	K562	blood:
10	chr7:100192686..100194226-chr7:100194621..100197457,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000078487	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000146839	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000146830	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61014202	1.00[AFR][1000 genomes]
rs61052598	1.00[AFR][1000 genomes]
rs73407326	1.00[AFR][1000 genomes]
rs73407338	1.00[AFR][1000 genomes]
rs73407394	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
3	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100185000-100197600	Weak transcription	Ovary	ovary
2	chr7:100188000-100194000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:100188000-100198800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:100188200-100194000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:100188400-100197800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:100188600-100194800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:100188600-100197600	Weak transcription	Placenta	Placenta
8	chr7:100188600-100199000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:100188600-100199800	Weak transcription	Right Atrium	heart
10	chr7:100188600-100201400	Weak transcription	Spleen	Spleen
11	chr7:100189200-100197000	Strong transcription	Fetal Stomach	stomach
12	chr7:100189200-100197600	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:100189200-100199000	Weak transcription	Fetal Lung	lung
14	chr7:100190800-100197200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:100192000-100194400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:100192000-100194800	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr7:100192200-100197600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:100192400-100197200	Weak transcription	Fetal Intestine Small	intestine
19	chr7:100192800-100194000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:100192800-100197400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr7:100192800-100199000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:100193400-100194200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr7:100193400-100194400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:100193400-100199000	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links