Variant report

Variant	rs7812235
Chromosome Location	chr7:100211486-100211487
allele	C/G
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100208313..100211642-chr7:100274412..100277175,3	MCF-7	breast:
2	chr7:100210802..100213232-chr7:100246943..100248690,2	K562	blood:
3	chr7:100026802..100029460-chr7:100209697..100211823,3	MCF-7	breast:
4	chr7:100208465..100211590-chr7:100485559..100488810,4	MCF-7	breast:
5	chr7:100207856..100214217-chr7:100235772..100240956,9	K562	blood:
6	chr7:100025028..100029218-chr7:100206824..100213289,7	K562	blood:
7	chr7:100206101..100213131-chr7:100214394..100226559,23	K562	blood:
8	chr7:100208530..100211610-chr7:100269581..100272676,5	K562	blood:
9	chr7:100208147..100211505-chr7:100280175..100284290,3	MCF-7	breast:
10	chr7:100207807..100212872-chr7:100269575..100273736,11	MCF-7	breast:
11	chr7:100208069..100211610-chr7:100269776..100275197,5	K562	blood:
12	chr7:100210571..100212483-chr7:100283405..100286234,2	K562	blood:
13	chr7:100024499..100027894-chr7:100208680..100211740,5	MCF-7	breast:
14	chr7:100207856..100215304-chr7:100235701..100242038,10	K562	blood:
15	chr7:100208328..100213557-chr7:100269728..100273649,8	MCF-7	breast:
16	chr7:100182175..100185247-chr7:100208524..100211802,7	K562	blood:
17	chr7:100199287..100203860-chr7:100204915..100211773,14	MCF-7	breast:
18	chr7:100180934..100186212-chr7:100208003..100211666,10	K562	blood:
19	chr7:100181910..100186072-chr7:100207984..100213440,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224729	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000146830	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10487157	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10953298	0.96[ASN][1000 genomes]
rs11764045	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11766643	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11767547	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11770389	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11983745	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12532878	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13227444	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2075672	0.86[JPT][hapmap]
rs2075674	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2231170	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs2231172	0.83[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs28584500	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41303510	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4729597	0.86[JPT][hapmap]
rs4729601	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs62482237	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62482238	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62482239	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62482242	0.84[AMR][1000 genomes]
rs6958696	0.83[AMR][1000 genomes]
rs6969584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156234	0.83[AMR][1000 genomes]
rs73407376	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7385804	0.86[JPT][hapmap]
rs7457024	0.96[ASN][1000 genomes]
rs7786877	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7812123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7812235	PERQ1	cis	multi-tissue	Pritchard
rs7812235	MOSPD3	cis	Whole Blood	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100210200-100211600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
2	chr7:100210200-100211600	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr7:100210200-100211600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr7:100210200-100211800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr7:100210200-100211800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:100210200-100211800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr7:100210400-100211600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr7:100210400-100211600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr7:100210400-100211600	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr7:100210400-100211800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr7:100210400-100211800	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr7:100210400-100211800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr7:100210600-100211600	Flanking Active TSS	Brain Cingulate Gyrus	brain
14	chr7:100210600-100211800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr7:100210600-100211800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:100210600-100224400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:100210800-100211600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:100210800-100211800	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:100210800-100212000	Enhancers	Primary B cells from cord blood	blood
20	chr7:100210800-100212200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:100210800-100212200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:100211000-100211600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:100211000-100211600	Enhancers	Fetal Muscle Leg	muscle
24	chr7:100211000-100211800	Enhancers	Liver	Liver
25	chr7:100211000-100211800	Enhancers	Brain Hippocampus Middle	brain
26	chr7:100211000-100212000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:100211000-100212000	Enhancers	Fetal Brain Male	brain
28	chr7:100211000-100212000	Enhancers	Fetal Thymus	thymus
29	chr7:100211000-100212200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:100211000-100214400	Weak transcription	Gastric	stomach
31	chr7:100211000-100217400	Weak transcription	Aorta	Aorta
32	chr7:100211000-100217400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:100211000-100223800	Weak transcription	Fetal Kidney	kidney
34	chr7:100211000-100224600	Weak transcription	Small Intestine	intestine
35	chr7:100211200-100211600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr7:100211200-100211600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:100211200-100211600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr7:100211200-100211800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:100211200-100211800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr7:100211200-100211800	Enhancers	Adipose Nuclei	Adipose
41	chr7:100211200-100211800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr7:100211200-100211800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr7:100211200-100212200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:100211200-100213000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:100211200-100214000	Weak transcription	Brain Anterior Caudate	brain
46	chr7:100211200-100214000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr7:100211200-100214600	Weak transcription	Right Atrium	heart
48	chr7:100211200-100215400	Weak transcription	Fetal Intestine Large	intestine
49	chr7:100211200-100215400	Weak transcription	Hela-S3	cervix
50	chr7:100211200-100218600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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