Variant report

Variant	rs10251282
Chromosome Location	chr7:98990236-98990237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:98989498-98998154	PANC-1	pancreas:	n/a	n/a
2	CTBP2	chr7:98990111-98991153	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr7:98990128-98991025	ECC-1	luminal epithelium:	n/a	chr7:98990276-98990286 chr7:98990744-98990751 chr7:98990832-98990842 chr7:98990716-98990726 chr7:98990525-98990535 chr7:98990746-98990755
4	POLR2A	chr7:98990024-98992254	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr7:98989522-98998944	PANC-1	pancreas:	n/a	n/a
6	EP300	chr7:98990099-98991179	ECC-1	luminal epithelium:	n/a	chr7:98990518-98990534
7	POLR2A	chr7:98990059-98990328	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:98990027-98990832	A549	lung:	n/a	n/a
9	POLR2A	chr7:98989637-98992283	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr7:98986864-98999101	K562	blood:	n/a	n/a
11	CREB1	chr7:98990223-98991264	H1-hESC	embryonic stem cell:	n/a	n/a
12	ELF1	chr7:98989766-98990251	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:98989660-98992284	HL-60	blood:	n/a	n/a
14	POLR2A	chr7:98989481-98998177	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr7:98989722-98992248	K562	blood:	n/a	n/a
16	POLR2A	chr7:98989622-98998764	K562	blood:	n/a	n/a
17	POLR2A	chr7:98989797-98992248	GM19099	blood:	n/a	n/a
18	POLR2A	chr7:98988204-98999255	K562	blood:	n/a	n/a
19	POLR2A	chr7:98989700-98999127	A549	lung:	n/a	n/a
20	POLR2A	chr7:98990160-98992281	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr7:98989673-98992223	GM12878	blood:	n/a	n/a
22	MAX	chr7:98989528-98991000	MCF-7	breast:	n/a	chr7:98990276-98990286 chr7:98990744-98990751 chr7:98990832-98990842 chr7:98990716-98990726 chr7:98990525-98990535 chr7:98990746-98990755
23	SIN3AK20	chr7:98990171-98991073	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:98989876-98991336	ProgFib	skin:	n/a	n/a
25	POLR2A	chr7:98989644-98993973	Hela-S3	cervix:	n/a	n/a
26	ZNF143	chr7:98990175-98991437	H1-hESC	embryonic stem cell:	n/a	chr7:98991238-98991247
27	SIN3A	chr7:98990123-98991485	H1-hESC	embryonic stem cell:	n/a	chr7:98990521-98990532
28	POLR2A	chr7:98990031-98991004	HUVEC	blood vessel:	n/a	n/a
29	CREB1	chr7:98990234-98991152	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr7:98989619-98992269	K562	blood:	n/a	n/a
31	JUND	chr7:98989659-98990789	MCF-7	breast:	n/a	n/a
32	MXI1	chr7:98989644-98992247	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr7:98989552-98999005	GM12891	blood:	n/a	n/a
34	POLR2A	chr7:98990227-98991266	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr7:98989640-98998952	GM12878	blood:	n/a	n/a
36	TCF12	chr7:98990225-98991263	ECC-1	luminal epithelium:	n/a	n/a
37	SP4	chr7:98990232-98991339	H1-hESC	embryonic stem cell:	n/a	chr7:98990749-98990760 chr7:98990520-98990536 chr7:98990522-98990538 chr7:98991112-98991128 chr7:98990715-98990726 chr7:98990713-98990729 chr7:98991110-98991126 chr7:98990829-98990845
38	CCNT2	chr7:98990150-98991422	K562	blood:	n/a	n/a
39	ELF1	chr7:98989664-98991108	MCF-7	breast:	n/a	chr7:98990277-98990289 chr7:98990982-98990993 chr7:98990981-98990994
40	POLR2A	chr7:98987820-98994059	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:98989640-98994090	U87	brain:	n/a	n/a
42	POLR2A	chr7:98989650-98992222	GM18951	blood:	n/a	n/a
43	POLR2A	chr7:98989671-98998973	K562	blood:	n/a	n/a
44	POLR2A	chr7:98989647-98998703	GM18505	blood:	n/a	n/a
45	POLR2A	chr7:98989453-98992345	PFSK-1	brain:	n/a	n/a
46	SIN3AK20	chr7:98990166-98990842	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr7:98989628-98992353	K562	blood:	n/a	n/a
48	POLR2A	chr7:98989706-98992101	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr7:98989526-98992243	K562	blood:	n/a	n/a
50	NR2F2	chr7:98989566-98991074	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:98933693..98936414-chr7:98989048..98991097,2	MCF-7	breast:
2	chr7:98988826..98993566-chr7:99002963..99006762,7	MCF-7	breast:
3	chr7:98923537..98926194-chr7:98989828..98992452,2	K562	blood:
4	chr7:98970980..98974747-chr7:98986775..98992580,7	MCF-7	breast:
5	chr7:98976910..98979073-chr7:98989172..98991412,2	MCF-7	breast:
6	chr7:98971244..98973231-chr7:98989224..98993180,5	MCF-7	breast:
7	chr7:98966757..98974253-chr7:98988800..98995304,7	K562	blood:

Variant related genes	Relation type
ARPC1B	TF binding region
ENSG00000106245	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000106244	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10279308	0.95[ASN][1000 genomes]
rs1045012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11972210	0.83[ASN][1000 genomes]
rs11978089	0.95[ASN][1000 genomes]
rs17161700	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17161726	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17854665	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003499	0.95[ASN][1000 genomes]
rs2293256	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404487	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404488	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377312	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460612	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558950	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668326	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28753399	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34943973	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3528	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823813	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45441991	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45448997	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45451992	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45461000	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45492501	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45529541	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45555335	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45592335	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55927283	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55942267	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167514	0.94[ASN][1000 genomes]
rs57367781	0.94[ASN][1000 genomes]
rs57832867	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59240302	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59672032	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974831	0.94[ASN][1000 genomes]
rs73397447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397481	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397499	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401507	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401510	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401516	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403247	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403272	0.94[ASN][1000 genomes]
rs73403286	0.94[ASN][1000 genomes]
rs73403290	0.94[ASN][1000 genomes]
rs73405247	0.94[ASN][1000 genomes]
rs73711280	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711293	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73711294	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73713507	0.94[ASN][1000 genomes]
rs73713531	0.89[ASN][1000 genomes]
rs7794068	0.94[ASN][1000 genomes]
rs7805661	0.94[ASN][1000 genomes]
rs917152	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952319	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98971000-98990400	Weak transcription	Fetal Kidney	kidney
2	chr7:98979400-99001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:98980400-99003800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:98980800-99000600	Strong transcription	Dnd41	blood
5	chr7:98981000-98993000	Strong transcription	A549	lung
6	chr7:98983800-98990600	Strong transcription	Osteobl	bone
7	chr7:98984800-98990400	Weak transcription	Fetal Lung	lung
8	chr7:98985600-99003800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:98986200-98992000	Weak transcription	HSMMtube	muscle
10	chr7:98987000-98990800	Strong transcription	Hela-S3	cervix
11	chr7:98987000-99004200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:98988800-98991000	Genic enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:98989000-98990400	Weak transcription	Aorta	Aorta
14	chr7:98989600-98990400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:98989600-98990400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:98989600-98990600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:98989600-98990600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr7:98989600-98990600	Enhancers	Stomach Mucosa	stomach
19	chr7:98989600-98991000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
20	chr7:98989600-98991000	Active TSS	Brain Substantia Nigra	brain
21	chr7:98989600-98991400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr7:98989600-98991400	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr7:98989600-98991600	Genic enhancers	HMEC	breast
24	chr7:98989800-98990400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:98989800-98990400	Enhancers	Liver	Liver
26	chr7:98989800-98990400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:98989800-98990400	Flanking Active TSS	Pancreas	Pancrea
28	chr7:98989800-98990600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:98989800-98990600	Enhancers	Fetal Brain Male	brain
30	chr7:98989800-98990800	Enhancers	Fetal Heart	heart
31	chr7:98989800-98990800	Transcr. at gene 5' and 3'	NHEK	skin
32	chr7:98989800-98991000	Genic enhancers	Muscle Satellite Cultured Cells	--
33	chr7:98989800-98991000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:98989800-98991000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:98989800-98991200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr7:98989800-98991200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr7:98989800-98991200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr7:98989800-98991200	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:98989800-98991200	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr7:98989800-98991200	Active TSS	Brain Cingulate Gyrus	brain
41	chr7:98989800-98991200	Weak transcription	HepG2	liver
42	chr7:98989800-98991400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:98989800-98991400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr7:98989800-98991600	Genic enhancers	Primary B cells from cord blood	blood
45	chr7:98989800-98991600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr7:98989800-98991600	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr7:98989800-98992000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:98990000-98990400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:98990000-98990400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:98990000-98990400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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