Variant report

Variant	rs203867
Chromosome Location	chr6:28050818-28050819
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	FOS	chr6:28050803-28050989	MCF10A-Er-Src	breast:	n/a	chr6:28050894-28050904 chr6:28050894-28050904 chr6:28050894-28050904
2	FOS	chr6:28050804-28051003	MCF10A-Er-Src	breast:	n/a	chr6:28050894-28050904 chr6:28050894-28050904 chr6:28050894-28050904
3	CEBPB	chr6:28050767-28050966	K562	blood:	n/a	chr6:28050860-28050873
4	BATF	chr6:28050730-28051005	GM12878	blood:	n/a	n/a
5	BATF	chr6:28050744-28051089	GM12878	blood:	n/a	n/a
6	SPI1	chr6:28050811-28051039	GM12878	blood:	n/a	chr6:28050956-28050969 chr6:28050959-28050966

No.	Distal block	Cell Line	Cell type
1	chr6:28049008..28053394-chr6:28054919..28058473,6	MCF-7	breast:
2	chr6:27803974..27806831-chr6:28047434..28050953,3	K562	blood:
3	chr6:27869786..27872331-chr6:28049938..28051848,2	K562	blood:
4	chr6:28050054..28052480-chr6:28302196..28303996,2	MCF-7	breast:
5	chr6:28043259..28045673-chr6:28049244..28050877,2	K562	blood:

Variant related genes	Relation type
ENSG00000272009	TF binding region
ENSG00000235109	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000233822	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1150682	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1225593	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs149854	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs149879	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs149898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs156741	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs156742	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1619221	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs175953	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs175955	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1770132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs183926	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs200962	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs200970	1.00[EUR][1000 genomes]
rs203874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2200870	1.00[EUR][1000 genomes]
rs2622318	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs276366	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs276367	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs276368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs276372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs366113	0.83[AMR][1000 genomes]
rs425159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56366090	1.00[EUR][1000 genomes]
rs57481919	1.00[EUR][1000 genomes]
rs60005089	1.00[EUR][1000 genomes]
rs60554811	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73740585	1.00[EUR][1000 genomes]
rs73740597	1.00[EUR][1000 genomes]
rs73740600	1.00[EUR][1000 genomes]
rs73742514	1.00[EUR][1000 genomes]
rs73742515	1.00[EUR][1000 genomes]
rs73742531	1.00[EUR][1000 genomes]
rs839777	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830619	chr6:27872302-28062544	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28047400-28051400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:28047600-28051400	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr6:28049400-28051200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:28049400-28053200	Weak transcription	Lung	lung
5	chr6:28049400-28053400	Weak transcription	Ovary	ovary
6	chr6:28049400-28055400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:28049400-28056600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:28049400-28056800	Weak transcription	Aorta	Aorta
9	chr6:28049600-28052000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:28049600-28053200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:28049600-28053400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:28049600-28053400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:28049600-28053400	Weak transcription	Brain Angular Gyrus	brain
14	chr6:28049600-28053400	Weak transcription	Fetal Stomach	stomach
15	chr6:28049600-28053400	Weak transcription	Gastric	stomach
16	chr6:28049600-28053400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:28049600-28053400	Weak transcription	Small Intestine	intestine
18	chr6:28049600-28053400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr6:28049600-28054200	Weak transcription	Thymus	Thymus
20	chr6:28049600-28054800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:28049600-28055000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:28049600-28055200	Weak transcription	Colonic Mucosa	Colon
23	chr6:28049600-28055400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:28049600-28055600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr6:28049600-28055600	Weak transcription	Fetal Kidney	kidney
26	chr6:28049600-28056000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:28049600-28056000	Weak transcription	Left Ventricle	heart
28	chr6:28049600-28056400	Weak transcription	Esophagus	oesophagus
29	chr6:28049600-28056400	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:28049600-28056600	Weak transcription	Psoas Muscle	Psoas
31	chr6:28049600-28057000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr6:28049600-28058600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr6:28049600-28058600	Weak transcription	Brain Substantia Nigra	brain
34	chr6:28049600-28059200	Weak transcription	Fetal Brain Male	brain
35	chr6:28049600-28063000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:28049800-28051000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:28049800-28051200	Weak transcription	K562	blood
38	chr6:28049800-28053200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:28049800-28053200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr6:28049800-28053200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:28049800-28053200	Weak transcription	Primary B cells from cord blood	blood
42	chr6:28049800-28053200	Weak transcription	Liver	Liver
43	chr6:28049800-28053200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:28049800-28053400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:28049800-28053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:28049800-28053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr6:28049800-28053400	Weak transcription	Fetal Intestine Large	intestine
48	chr6:28049800-28053400	Weak transcription	Fetal Intestine Small	intestine
49	chr6:28049800-28053400	Weak transcription	Placenta	Placenta
50	chr6:28049800-28053600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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