Variant report

Variant	rs10085615
Chromosome Location	chr7:7608315-7608316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr7:7607313-7609708	GM12878	blood:	n/a	n/a
2	MXI1	chr7:7606284-7609622	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:7606180-7609855	GM12892	blood:	n/a	n/a
4	SIN3A	chr7:7608273-7608972	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:7607929-7608442	GM12891	blood:	n/a	n/a
6	TBL1XR1	chr7:7608295-7609722	GM12878	blood:	n/a	n/a
7	GATA2	chr7:7607638-7608334	SH-SY5Y	brain:	n/a	n/a
8	ATF2	chr7:7608247-7609672	GM12878	blood:	n/a	n/a
9	ZNF384	chr7:7608104-7609118	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:7607548-7610838	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:7607549-7609826	GM12892	blood:	n/a	n/a
12	EP300	chr7:7608262-7609101	GM12878	blood:	n/a	chr7:7608822-7608836
13	BCLAF1	chr7:7608244-7609192	GM12878	blood:	n/a	n/a
14	CHD1	chr7:7608203-7609706	GM12878	blood:	n/a	n/a
15	PML	chr7:7608278-7609709	GM12878	blood:	n/a	n/a
16	POLR2A	chr7:7608088-7608438	GM12891	blood:	n/a	n/a
17	POLR2A	chr7:7606226-7609771	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:7606186-7608743	MCF10A-Er-Src	breast:	n/a	n/a
19	WRNIP1	chr7:7608002-7608335	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:7606063-7609760	GM19099	blood:	n/a	n/a
21	POLR2A	chr7:7608142-7609744	GM12892	blood:	n/a	n/a
22	POLR2A	chr7:7608024-7608494	GM12891	blood:	n/a	n/a
23	POLR2A	chr7:7606056-7610648	GM12891	blood:	n/a	n/a
24	POLR2A	chr7:7606087-7610683	GM12892	blood:	n/a	n/a
25	RCOR1	chr7:7607566-7609706	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:7608122-7608445	GM12891	blood:	n/a	n/a
27	POLR2A	chr7:7607888-7609742	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:7606006-7610933	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:7606174-7610054	GM18505	blood:	n/a	n/a
30	POLR2A	chr7:7606127-7610748	GM12878	blood:	n/a	n/a
31	MTA3	chr7:7606085-7609611	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:7606253-7610047	GM12878	blood:	n/a	n/a
33	STAT3	chr7:7608238-7609363	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7605291..7607922-chr7:7608027..7610593,4	MCF-7	breast:
2	chr7:7588099..7594648-chr7:7604621..7611487,9	MCF-7	breast:
3	chr7:7605040..7608458-chr7:7677009..7681661,8	K562	blood:
4	chr7:7608142..7610362-chr7:7619716..7621780,2	K562	blood:
5	chr7:7605958..7609334-chr7:7621457..7626452,6	MCF-7	breast:
6	chr7:7220051..7223731-chr7:7605300..7608795,5	K562	blood:
7	chr7:7603046..7608569-chr7:7677123..7682101,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272894	TF binding region
ENSG00000106399	Chromatin interaction
ENSG00000106392	Chromatin interaction
ENSG00000272732	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000219545	Chromatin interaction
ENSG00000164654	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10085678	1.00[AMR][1000 genomes]
rs10224056	1.00[AMR][1000 genomes]
rs10226442	1.00[AMR][1000 genomes]
rs10227544	1.00[AMR][1000 genomes]
rs10237888	1.00[AMR][1000 genomes]
rs10242691	1.00[AMR][1000 genomes]
rs10244335	1.00[AMR][1000 genomes]
rs10244366	1.00[AMR][1000 genomes]
rs10244757	1.00[AMR][1000 genomes]
rs10246309	1.00[AMR][1000 genomes]
rs10247226	1.00[AMR][1000 genomes]
rs10255581	1.00[AMR][1000 genomes]
rs10257117	1.00[AMR][1000 genomes]
rs10257279	1.00[AMR][1000 genomes]
rs10257458	1.00[AMR][1000 genomes]
rs10258922	1.00[AMR][1000 genomes]
rs10259911	1.00[AMR][1000 genomes]
rs10262309	1.00[AMR][1000 genomes]
rs10266393	1.00[AMR][1000 genomes]
rs10267405	1.00[AMR][1000 genomes]
rs10269709	1.00[AMR][1000 genomes]
rs10278024	1.00[AMR][1000 genomes]
rs10282183	1.00[AMR][1000 genomes]
rs12333875	1.00[AMR][1000 genomes]
rs12334276	1.00[AMR][1000 genomes]
rs17168530	1.00[AMR][1000 genomes]
rs28442228	1.00[AMR][1000 genomes]
rs28535494	1.00[AMR][1000 genomes]
rs28565038	1.00[AMR][1000 genomes]
rs28602992	1.00[AMR][1000 genomes]
rs28681690	1.00[AMR][1000 genomes]
rs28712138	1.00[AMR][1000 genomes]
rs28842558	1.00[AMR][1000 genomes]
rs6951703	1.00[AMR][1000 genomes]
rs7778417	1.00[AMR][1000 genomes]
rs7791164	1.00[AMR][1000 genomes]
rs7805479	1.00[AMR][1000 genomes]
rs7810456	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7605800-7608600	Active TSS	NHLF	lung
2	chr7:7606000-7609200	Active TSS	Right Atrium	heart
3	chr7:7606200-7608400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:7606200-7608400	Active TSS	HSMM	muscle
5	chr7:7606200-7609800	Active TSS	GM12878-XiMat	blood
6	chr7:7606400-7608400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:7607000-7608400	Flanking Active TSS	Liver	Liver
8	chr7:7607000-7608400	Flanking Active TSS	Dnd41	blood
9	chr7:7607000-7608800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr7:7607000-7609400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr7:7607200-7608400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:7607200-7608400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:7607200-7608400	Flanking Active TSS	Colon Smooth Muscle	Colon
14	chr7:7607200-7608600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr7:7607200-7608600	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr7:7607200-7609000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:7607200-7609200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr7:7607200-7609200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:7607200-7609200	Weak transcription	Spleen	Spleen
20	chr7:7607200-7609400	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr7:7607200-7609600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr7:7607200-7609800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr7:7607200-7648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:7607400-7608400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:7607400-7608400	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr7:7607400-7608400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr7:7607400-7608400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr7:7607400-7608600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:7607400-7608600	Flanking Active TSS	NHEK	skin
30	chr7:7607400-7608800	Flanking Active TSS	K562	blood
31	chr7:7607400-7609200	Weak transcription	Gastric	stomach
32	chr7:7607400-7609400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:7607400-7609400	Enhancers	Small Intestine	intestine
34	chr7:7607400-7609600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr7:7607400-7610200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:7607400-7612400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
37	chr7:7607400-7646400	Weak transcription	Esophagus	oesophagus
38	chr7:7607400-7648200	Weak transcription	Lung	lung
39	chr7:7607600-7608400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:7607600-7608400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:7607600-7608400	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr7:7607600-7608400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr7:7607600-7608600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:7607600-7608600	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr7:7607600-7608600	Flanking Active TSS	Fetal Brain Female	brain
46	chr7:7607600-7608600	Flanking Active TSS	Thymus	Thymus
47	chr7:7607600-7608600	Flanking Active TSS	Hela-S3	cervix
48	chr7:7607600-7608800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr7:7607600-7608800	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr7:7607600-7608800	Weak transcription	Fetal Muscle Trunk	muscle

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