Variant report

Variant	rs1275407
Chromosome Location	chr14:69593452-69593453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69590965..69593609-chr14:69597562..69600294,2	MCF-7	breast:
2	chr14:69593279..69595592-chr14:69619666..69622024,2	MCF-7	breast:
3	chr14:69592620..69595171-chr14:69596587..69598380,2	K562	blood:
4	chr14:69582977..69587212-chr14:69591964..69596113,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139990	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1007407	0.82[JPT][hapmap]
rs10083451	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10130013	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap]
rs10131077	0.90[ASN][1000 genomes]
rs10132533	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs1013762	0.91[CEU][hapmap]
rs10139873	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10141040	0.90[ASN][1000 genomes]
rs10143302	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs10145565	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10146339	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs10147369	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs10148614	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10149232	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs10498527	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1105625	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11158782	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11158784	0.87[CEU][hapmap];0.87[GIH][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs11158785	0.87[CEU][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs11158786	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11158787	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap]
rs11158788	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11158789	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11158790	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11158795	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs11158798	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs1147481	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11622889	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs11628126	0.84[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12431846	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs12432970	0.85[JPT][hapmap]
rs12434478	0.85[JPT][hapmap]
rs12434775	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs12435594	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs12437418	0.94[ASN][1000 genomes]
rs12589028	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1275413	0.92[EUR][1000 genomes]
rs1275414	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1275415	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1275417	0.87[CEU][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap];0.87[EUR][1000 genomes]
rs12879406	0.89[CHB][hapmap]
rs12886715	0.88[CHB][hapmap];0.82[JPT][hapmap]
rs12889849	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs1626122	0.87[EUR][1000 genomes]
rs17093668	0.85[JPT][hapmap]
rs1710989	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1710990	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs1892297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1914004	1.00[CHB][hapmap]
rs2001355	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2001998	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2012764	0.82[JPT][hapmap]
rs2024892	0.84[JPT][hapmap]
rs2024893	0.85[JPT][hapmap]
rs2056153	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs2268968	0.85[JPT][hapmap]
rs2300875	0.82[JPT][hapmap]
rs2331919	0.82[ASN][1000 genomes]
rs28613298	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3211166	0.89[CHB][hapmap]
rs4902682	0.85[JPT][hapmap]
rs4902695	0.91[CEU][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs6573869	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs67313346	0.86[EUR][1000 genomes]
rs7148045	0.82[JPT][hapmap]
rs7160629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs8008184	1.00[CHB][hapmap];0.94[CHD][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs8015876	0.85[JPT][hapmap]
rs9323521	0.87[CEU][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs9323522	0.86[ASN][1000 genomes]
rs9323524	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1275407	RAD51L1	cis	parietal	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69558800-69595800	Weak transcription	Hela-S3	cervix
2	chr14:69565200-69596200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:69568600-69596000	Weak transcription	K562	blood
4	chr14:69568800-69595600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:69582000-69595800	Weak transcription	Fetal Heart	heart
6	chr14:69582000-69595800	Weak transcription	A549	lung
7	chr14:69582200-69596000	Weak transcription	Small Intestine	intestine
8	chr14:69583200-69618000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:69584800-69595600	Weak transcription	Brain Germinal Matrix	brain
10	chr14:69584800-69596200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:69584800-69596200	Weak transcription	Stomach Mucosa	stomach
12	chr14:69585000-69595400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:69585000-69595800	Weak transcription	NHLF	lung
14	chr14:69585000-69596000	Weak transcription	Brain Substantia Nigra	brain
15	chr14:69585000-69596200	Weak transcription	Colonic Mucosa	Colon
16	chr14:69585000-69599600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:69585000-69600000	Weak transcription	Right Ventricle	heart
18	chr14:69585000-69604400	Weak transcription	Spleen	Spleen
19	chr14:69585200-69595200	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:69585200-69595800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:69585200-69595800	Weak transcription	NHEK	skin
22	chr14:69585200-69596200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:69585200-69600000	Weak transcription	Aorta	Aorta
24	chr14:69585200-69600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:69585200-69605800	Weak transcription	Lung	lung
26	chr14:69585400-69595800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:69585400-69595800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:69585400-69595800	Weak transcription	Fetal Brain Male	brain
29	chr14:69585400-69596200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:69585400-69596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:69585600-69595600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:69585600-69595600	Weak transcription	Brain Anterior Caudate	brain
33	chr14:69585600-69595800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr14:69585600-69595800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:69585600-69595800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:69585600-69595800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:69585600-69595800	Weak transcription	Fetal Brain Female	brain
38	chr14:69585600-69596000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:69585600-69596000	Weak transcription	HSMMtube	muscle
40	chr14:69585600-69596200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:69585600-69596400	Weak transcription	Fetal Stomach	stomach
42	chr14:69585600-69600200	Weak transcription	Esophagus	oesophagus
43	chr14:69585600-69609200	Weak transcription	Fetal Kidney	kidney
44	chr14:69585800-69596200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:69586000-69595800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:69586000-69595800	Weak transcription	NH-A	brain
47	chr14:69586000-69596000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:69586000-69596200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:69586000-69596200	Weak transcription	Dnd41	blood
50	chr14:69586000-69596200	Weak transcription	HUVEC	blood vessel

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