Variant report

Variant	rs2994609
Chromosome Location	chr1:85159640-85159641
allele	C/G
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	TCF12	chr1:85159480-85159995	SK-N-SH	brain:	n/a	n/a
2	MAX	chr1:85159470-85159830	K562	blood:	n/a	n/a
3	MYC	chr1:85159609-85159753	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:85159631-85159831	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:85159618-85159814	MCF10A-Er-Src	breast:	n/a	n/a
6	SETDB1	chr1:85159534-85159709	U2OS	brain:	n/a	n/a
7	CBX3	chr1:85159419-85159905	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85156360..85157951-chr1:85158216..85159776,2	MCF-7	breast:

Variant related genes	Relation type
SSX2IP	TF binding region
ENSG00000117155	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10874456	0.85[EUR][1000 genomes]
rs10874457	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1340524	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1538848	0.86[EUR][1000 genomes]
rs17376391	0.87[EUR][1000 genomes]
rs2911560	0.83[EUR][1000 genomes]
rs2911569	0.81[ASW][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2911572	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2911580	0.87[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2911582	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2911612	0.81[EUR][1000 genomes]
rs2943662	0.81[EUR][1000 genomes]
rs2994436	0.83[EUR][1000 genomes]
rs2994438	0.83[EUR][1000 genomes]
rs2994441	0.81[ASW][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2994442	0.83[EUR][1000 genomes]
rs2994445	0.81[EUR][1000 genomes]
rs2994939	0.81[ASW][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2994945	0.81[EUR][1000 genomes]
rs2994950	0.83[EUR][1000 genomes]
rs3021456	0.83[EUR][1000 genomes]
rs4434855	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4907090	0.92[EUR][1000 genomes]
rs6576719	1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6576720	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72954036	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7527484	0.87[EUR][1000 genomes]
rs7535997	0.86[CEU][hapmap];0.97[EUR][1000 genomes]
rs7536257	0.81[EUR][1000 genomes]
rs7546691	0.83[EUR][1000 genomes]

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85157000-85163000	Weak transcription	Aorta	Aorta
2	chr1:85157000-85164000	Weak transcription	Fetal Lung	lung
3	chr1:85157000-85164600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:85157200-85162800	Weak transcription	NHDF-Ad	bronchial
5	chr1:85157200-85163000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:85157200-85163400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:85157200-85163800	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:85157400-85160800	Weak transcription	Fetal Heart	heart
9	chr1:85157400-85161000	Weak transcription	Left Ventricle	heart
10	chr1:85157400-85162600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:85157400-85162800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:85157400-85162800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:85157400-85162800	Weak transcription	Fetal Brain Male	brain
14	chr1:85157400-85163000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:85157400-85163000	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:85157400-85163000	Weak transcription	Esophagus	oesophagus
17	chr1:85157400-85163000	Weak transcription	HSMM	muscle
18	chr1:85157400-85163000	Weak transcription	NHLF	lung
19	chr1:85157400-85163200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:85157400-85163400	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:85157400-85164000	Weak transcription	Fetal Brain Female	brain
22	chr1:85157400-85167200	Weak transcription	Psoas Muscle	Psoas
23	chr1:85158000-85162800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:85158200-85163200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:85158200-85164000	Weak transcription	Brain Substantia Nigra	brain
26	chr1:85158600-85163200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:85158600-85163400	Weak transcription	Stomach Mucosa	stomach
28	chr1:85158800-85162800	Weak transcription	Fetal Intestine Large	intestine
29	chr1:85158800-85163400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:85159000-85159800	Enhancers	K562	blood
31	chr1:85159000-85160000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:85159000-85163400	Weak transcription	Small Intestine	intestine
33	chr1:85159000-85163800	Weak transcription	Fetal Kidney	kidney
34	chr1:85159000-85164000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:85159200-85160000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:85159200-85163800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:85159200-85164800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr1:85159600-85160600	Weak transcription	Primary B cells from cord blood	blood
39	chr1:85159600-85164000	Weak transcription	Fetal Thymus	thymus
40	chr1:85159600-85164200	Weak transcription	Primary T cells from cord blood	blood

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