Variant report

Variant	rs6900530
Chromosome Location	chr6:35280971-35280972
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	SPI1	chr6:35280646-35281069	HL-60	blood:	n/a	chr6:35280801-35280808 chr6:35280903-35280916

No.	Distal block	Cell Line	Cell type
1	chr6:35276255..35278969-chr6:35280899..35282623,2	K562	blood:
2	chr6:35271752..35272749-chr6:35280146..35281158,10	MCF-7	breast:
3	chr6:35271891..35272664-chr6:35280221..35281099,4	MCF-7	breast:
4	chr6:35278958..35282229-chr6:35283892..35290479,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TEAD3-5	chr6:35280901-35281162	ucscGeneNc_uc003oke_2

Variant related genes	Relation type
DEF6	TF binding region
ENSG00000023892	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1053046	1.00[JPT][hapmap]
rs3213573	1.00[JPT][hapmap]
rs59756313	0.84[EUR][1000 genomes]
rs6457813	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6457814	0.92[EUR][1000 genomes]
rs6457816	1.00[JPT][hapmap]
rs6901410	1.00[JPT][hapmap]
rs6902123	1.00[JPT][hapmap]
rs6906237	1.00[JPT][hapmap]
rs6919334	1.00[JPT][hapmap]
rs6922548	1.00[JPT][hapmap]
rs707969	1.00[JPT][hapmap]
rs73407643	1.00[ASN][1000 genomes]
rs73411802	0.92[EUR][1000 genomes]
rs73413704	0.92[EUR][1000 genomes]
rs7739752	1.00[JPT][hapmap]
rs7746988	1.00[JPT][hapmap]
rs9296148	1.00[JPT][hapmap]
rs9296154	1.00[JPT][hapmap]
rs9470001	1.00[JPT][hapmap]
rs9470007	1.00[JPT][hapmap]
rs9658083	1.00[JPT][hapmap]
rs9658100	1.00[JPT][hapmap]
rs9658125	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35265200-35285600	Weak transcription	Brain Substantia Nigra	brain
2	chr6:35271400-35285000	Weak transcription	HepG2	liver
3	chr6:35271600-35285200	Weak transcription	Fetal Intestine Large	intestine
4	chr6:35271600-35285600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:35272400-35284600	Weak transcription	HMEC	breast
6	chr6:35272400-35285400	Weak transcription	Gastric	stomach
7	chr6:35276000-35293800	Weak transcription	K562	blood
8	chr6:35276800-35281000	Strong transcription	NHEK	skin
9	chr6:35277000-35281600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:35277000-35285400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:35278000-35281000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:35278200-35285600	Weak transcription	Colonic Mucosa	Colon
13	chr6:35278600-35285400	Weak transcription	Pancreas	Pancrea
14	chr6:35279000-35285400	Weak transcription	Esophagus	oesophagus
15	chr6:35279000-35285600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:35279200-35282600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:35279400-35285400	Weak transcription	Right Atrium	heart
18	chr6:35279600-35282000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:35279800-35281000	Strong transcription	Dnd41	blood
20	chr6:35279800-35281600	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr6:35279800-35282000	Genic enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:35279800-35282000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:35280000-35281000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
24	chr6:35280000-35281000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:35280000-35281800	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:35280000-35285200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:35280000-35285400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:35280200-35281000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr6:35280200-35282000	Genic enhancers	Monocytes-CD14+_RO01746	blood
30	chr6:35280200-35283000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:35280200-35285200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr6:35280200-35285400	Weak transcription	Left Ventricle	heart
33	chr6:35280200-35285600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:35280200-35285600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:35280400-35281600	Genic enhancers	Primary B cells from cord blood	blood
36	chr6:35280400-35282000	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr6:35280400-35282000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:35280400-35283200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr6:35280400-35285000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr6:35280400-35285400	Weak transcription	Fetal Stomach	stomach
41	chr6:35280600-35281200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr6:35280600-35281800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:35280600-35281800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr6:35280600-35282000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
45	chr6:35280600-35282000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:35280600-35283000	Enhancers	Primary T cells from cord blood	blood
47	chr6:35280600-35283000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr6:35280600-35284000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:35280600-35285000	Weak transcription	Spleen	Spleen
50	chr6:35280600-35285200	Weak transcription	Fetal Intestine Small	intestine

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