Variant report

Variant	rs13244658
Chromosome Location	chr7:99035496-99035497
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99035108-99037621	K562	blood:	n/a	n/a
2	GTF3C2	chr7:99035298-99036412	K562	blood:	n/a	n/a
3	BHLHE40	chr7:99035407-99035607	K562	blood:	n/a	n/a
4	GTF3C2	chr7:99035349-99036080	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr7:99035445-99038169	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr7:99034966-99035554	HepG2	liver:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99001484..99003635-chr7:99032738..99035703,2	K562	blood:
2	chr7:99034517..99037333-chr7:99070217..99072293,2	K562	blood:
3	chr7:98739484..98741856-chr7:99035435..99038061,2	K562	blood:
4	chr7:99011715..99014053-chr7:99034853..99036468,2	K562	blood:
5	chr7:99004207..99009187-chr7:99032699..99039268,13	MCF-7	breast:
6	chr7:98970707..98973711-chr7:99034539..99037806,4	MCF-7	breast:
7	chr7:99035431..99038374-chr7:99696976..99699327,2	K562	blood:
8	chr7:99005761..99007888-chr7:99034840..99036856,3	K562	blood:
9	chr7:99003930..99008101-chr7:99034839..99037079,5	K562	blood:
10	chr7:99010009..99013201-chr7:99032916..99037248,5	MCF-7	breast:
11	chr7:99035477..99037165-chr7:100025272..100027414,2	K562	blood:
12	chr7:99034720..99038160-chr7:99048984..99054018,5	MCF-7	breast:
13	chr7:98970391..98972681-chr7:99033800..99036309,2	K562	blood:
14	chr7:99004073..99007178-chr7:99034881..99037749,7	MCF-7	breast:
15	chr7:99034954..99037866-chr7:99677567..99679393,3	K562	blood:
16	chr7:99034954..99037975-chr7:99677842..99679932,3	K562	blood:
17	chr7:99034906..99037926-chr7:99095119..99098935,4	K562	blood:
18	chr7:99030944..99035080-chr7:99035226..99039444,6	MCF-7	breast:
19	chr7:98971332..98973489-chr7:99034701..99036393,2	MCF-7	breast:
20	chr7:99035327..99038027-chr7:99096331..99099819,5	MCF-7	breast:

No data

Variant related genes	Relation type
PTCD1	TF binding region
CPSF4	TF binding region
ENSG00000130429	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000198556	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000198742	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000160908	Chromatin interaction
ENSG00000160917	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000239133	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000166508	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10258918	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv888767	chr7:99017832-99050039	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv888768	chr7:99017832-99052428	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv888769	chr7:99018584-99041748	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
6	nsv888770	chr7:99021344-99041748	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99015600-99035600	Weak transcription	Stomach Mucosa	stomach
2	chr7:99016800-99036000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr7:99017600-99035600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:99018400-99035600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:99023000-99036000	Weak transcription	Small Intestine	intestine
6	chr7:99027200-99035600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:99028000-99035600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:99032800-99035600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:99032800-99035600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:99032800-99035600	Weak transcription	Left Ventricle	heart
11	chr7:99032800-99035600	Weak transcription	Psoas Muscle	Psoas
12	chr7:99032800-99035600	Weak transcription	Right Ventricle	heart
13	chr7:99033000-99035600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:99033000-99035600	Weak transcription	Brain Substantia Nigra	brain
15	chr7:99033000-99035600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:99033000-99036000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:99033200-99036000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:99033800-99036000	Weak transcription	Spleen	Spleen
19	chr7:99034200-99035600	Weak transcription	Primary T cells from cord blood	blood
20	chr7:99034400-99036600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:99034800-99035600	Enhancers	Fetal Muscle Trunk	muscle
22	chr7:99034800-99038200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:99035000-99035600	Enhancers	Esophagus	oesophagus
24	chr7:99035000-99035600	Enhancers	Fetal Brain Male	brain
25	chr7:99035000-99035600	Enhancers	Placenta	Placenta
26	chr7:99035000-99035600	Enhancers	Pancreas	Pancrea
27	chr7:99035000-99035600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr7:99035000-99035800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:99035000-99036000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr7:99035000-99036000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:99035200-99035600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:99035200-99035600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:99035200-99035600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr7:99035200-99035600	Enhancers	Adipose Nuclei	Adipose
35	chr7:99035200-99035600	Enhancers	Brain Angular Gyrus	brain
36	chr7:99035200-99035600	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:99035200-99035600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:99035200-99035600	Enhancers	Fetal Muscle Leg	muscle
39	chr7:99035200-99035800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:99035200-99035800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:99035200-99035800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:99035200-99035800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:99035200-99035800	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr7:99035200-99035800	Enhancers	Primary B cells from peripheral blood	blood
45	chr7:99035200-99035800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr7:99035200-99035800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:99035200-99035800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr7:99035200-99035800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:99035200-99035800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:99035200-99035800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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