Variant report

Variant	rs2282151
Chromosome Location	chr6:44226195-44226196
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	STAT3	chr6:44225436-44226631	GM12878	blood:	n/a	n/a
2	NR2F2	chr6:44225185-44226348	K562	blood:	n/a	chr6:44225487-44225502
3	POU2F2	chr6:44224143-44226722	GM12878	blood:	n/a	chr6:44224710-44224722 chr6:44224715-44224727
4	PML	chr6:44220368-44226860	GM12878	blood:	n/a	chr6:44223502-44223510
5	YY1	chr6:44226189-44226737	GM12892	blood:	n/a	n/a
6	POLR2A	chr6:44214205-44227205	GM12891	blood:	n/a	n/a
7	RUNX3	chr6:44223554-44226547	GM12878	blood:	n/a	n/a
8	POLR2A	chr6:44218235-44226207	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr6:44220531-44227269	GM19099	blood:	n/a	n/a
10	EP300	chr6:44226181-44226707	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:44224621-44226417	HL-60	blood:	n/a	n/a
12	POLR2A	chr6:44213452-44233528	GM12892	blood:	n/a	n/a
13	POLR2A	chr6:44213372-44233644	GM12891	blood:	n/a	n/a
14	POU2F2	chr6:44224581-44226530	GM12891	blood:	n/a	chr6:44224710-44224722 chr6:44224715-44224727
15	ZNF263	chr6:44224471-44226290	K562	blood:	n/a	chr6:44224805-44224814 chr6:44224704-44224713
16	JUN	chr6:44221871-44226237	K562	blood:	n/a	n/a
17	POLR2A	chr6:44213416-44233519	GM12878	blood:	n/a	n/a
18	CHD1	chr6:44224547-44226862	GM12878	blood:	n/a	chr6:44225411-44225421 chr6:44224708-44224718
19	USF2	chr6:44224707-44226866	GM12878	blood:	n/a	chr6:44225105-44225114 chr6:44224713-44224729 chr6:44225098-44225119 chr6:44225104-44225113 chr6:44225102-44225115 chr6:44225104-44225113 chr6:44225103-44225112 chr6:44225081-44225092 chr6:44225102-44225113
20	POLR2A	chr6:44213292-44226484	K562	blood:	n/a	n/a
21	NFATC1	chr6:44224382-44226695	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:44213785-44233471	GM12878	blood:	n/a	n/a
23	POLR2A	chr6:44224362-44227275	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:44213479-44233557	GM12892	blood:	n/a	n/a
25	EP300	chr6:44225321-44226571	GM12878	blood:	n/a	chr6:44225401-44225417
26	NFATC1	chr6:44224383-44226557	GM12878	blood:	n/a	n/a
27	MAFK	chr6:44225026-44226246	K562	blood:	n/a	n/a
28	TBL1XR1	chr6:44224601-44226774	GM12878	blood:	n/a	n/a
29	BHLHE40	chr6:44224647-44226658	GM12878	blood:	n/a	chr6:44225105-44225114 chr6:44224713-44224729 chr6:44225098-44225119 chr6:44225104-44225113 chr6:44225102-44225115 chr6:44225104-44225113 chr6:44225103-44225112
30	CEBPB	chr6:44225337-44226734	GM12878	blood:	n/a	n/a
31	ATF2	chr6:44224863-44226244	GM12878	blood:	n/a	n/a
32	EBF1	chr6:44225226-44226619	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:44221854-44228812	GM19193	blood:	n/a	n/a
34	SMC3	chr6:44225043-44226390	GM12878	blood:	n/a	chr6:44225508-44225522
35	POLR2A	chr6:44220482-44227119	GM18505	blood:	n/a	n/a
36	MTA3	chr6:44224391-44226656	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:44213632-44233614	GM12878	blood:	n/a	n/a
38	YY1	chr6:44226127-44226711	GM12878	blood:	n/a	n/a
39	EP300	chr6:44224952-44226634	GM12878	blood:	n/a	chr6:44225401-44225417
40	POLR2A	chr6:44221876-44226441	GM18526	blood:	n/a	n/a
41	RELA	chr6:44224664-44226749	GM19193	blood:	n/a	n/a
42	CHD2	chr6:44224544-44229859	GM12878	blood:	n/a	chr6:44225411-44225421 chr6:44224708-44224718
43	SPI1	chr6:44225206-44226763	GM12878	blood:	n/a	n/a
44	YY1	chr6:44226159-44226877	GM12878	blood:	n/a	n/a
45	BRCA1	chr6:44226095-44226371	GM12878	blood:	n/a	n/a
46	MAZ	chr6:44224273-44226619	IMR90	lung:	n/a	chr6:44225083-44225092 chr6:44224711-44224721 chr6:44225081-44225094 chr6:44225104-44225113 chr6:44225083-44225092 chr6:44225082-44225093 chr6:44225078-44225097 chr6:44225102-44225115
47	POLR2A	chr6:44216490-44233394	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:44224399-44227355	GM12878	blood:	n/a	n/a
49	POLR2A	chr6:44213681-44227286	GM12891	blood:	n/a	n/a
50	POLR2A	chr6:44224559-44226570	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:44223709..44226790-chr6:44264741..44266558,3	MCF-7	breast:
2	chr6:44223567..44227779-chr6:44264321..44266816,4	MCF-7	breast:
3	chr6:44093370..44096253-chr6:44223564..44226835,7	K562	blood:
4	chr6:44225090..44228269-chr6:44308012..44310883,3	K562	blood:
5	chr6:44094061..44096796-chr6:44223845..44226294,3	K562	blood:
6	chr6:44222000..44226440-chr6:44278583..44281839,6	K562	blood:

Variant related genes	Relation type
SLC35B2	TF binding region
MIR4647	TF binding region
ENSG00000124608	Chromatin interaction
ENSG00000249481	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000146221	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1875324	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[EUR][1000 genomes]
rs2039361	0.80[EUR][1000 genomes]
rs3757283	0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs4714772	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs523891	0.87[EUR][1000 genomes]
rs9462978	0.81[EUR][1000 genomes]
rs9472236	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs9472238	0.81[EUR][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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv885855	chr6:44223010-44231479	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
12	nsv885856	chr6:44223010-44232920	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
13	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 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	chr6:44224800-44226400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:44225400-44226200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:44225400-44226200	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr6:44225400-44226200	Flanking Active TSS	Hela-S3	cervix
5	chr6:44225400-44227600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:44225600-44226200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:44225600-44226200	Enhancers	Pancreas	Pancrea
8	chr6:44225600-44226200	Enhancers	Stomach Mucosa	stomach
9	chr6:44225600-44226400	Enhancers	Fetal Brain Male	brain
10	chr6:44225600-44227200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:44225600-44230800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:44225600-44232600	Weak transcription	Aorta	Aorta
13	chr6:44225800-44226200	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:44225800-44226200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:44225800-44226200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:44225800-44226200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:44225800-44226200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:44225800-44226200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:44225800-44226200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:44225800-44226200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr6:44225800-44226200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:44225800-44226200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:44225800-44226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:44225800-44226200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:44225800-44226200	Enhancers	Colonic Mucosa	Colon
26	chr6:44225800-44226200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr6:44225800-44226200	Genic enhancers	Fetal Lung	lung
28	chr6:44225800-44226200	Genic enhancers	Fetal Muscle Leg	muscle
29	chr6:44225800-44226200	Enhancers	Right Ventricle	heart
30	chr6:44225800-44226200	Weak transcription	NHEK	skin
31	chr6:44225800-44226400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:44225800-44226400	Genic enhancers	Primary monocytes fromperipheralblood	blood
33	chr6:44225800-44226400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:44225800-44226400	Genic enhancers	Fetal Thymus	thymus
35	chr6:44225800-44226600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:44225800-44226600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:44225800-44226600	Genic enhancers	Fetal Stomach	stomach
38	chr6:44225800-44226800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:44225800-44226800	Weak transcription	Esophagus	oesophagus
40	chr6:44225800-44226800	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr6:44225800-44227000	Weak transcription	Thymus	Thymus
42	chr6:44225800-44227400	Weak transcription	Brain Angular Gyrus	brain
43	chr6:44225800-44227400	Weak transcription	Left Ventricle	heart
44	chr6:44225800-44229800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr6:44225800-44230000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:44225800-44230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:44225800-44230000	Genic enhancers	Primary B cells from peripheral blood	blood
48	chr6:44225800-44230200	Weak transcription	Small Intestine	intestine
49	chr6:44225800-44230400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:44225800-44230400	Weak transcription	Right Atrium	heart

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