Variant report

Variant	rs4243633
Chromosome Location	chr14:69701863-69701864
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69694022..69696268-chr14:69699300..69702287,2	MCF-7	breast:
2	chr14:69618421..69622920-chr14:69696424..69702104,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081177	Chromatin interaction
ENSG00000139990	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10132533	0.88[CHB][hapmap]
rs10133226	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10133341	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10134554	0.90[EUR][1000 genomes]
rs10139153	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10139274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10150493	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10498528	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11158794	0.87[EUR][1000 genomes]
rs11158795	0.88[CHB][hapmap]
rs11158796	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158798	0.88[CHB][hapmap]
rs1147478	0.83[CEU][hapmap]
rs1147479	0.83[CEU][hapmap]
rs11848820	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1275405	0.83[CEU][hapmap]
rs1275408	0.83[CEU][hapmap]
rs1275410	0.85[CEU][hapmap]
rs1275411	0.83[CEU][hapmap]
rs1275420	0.88[CEU][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12879406	0.88[CHB][hapmap]
rs12886715	1.00[CHB][hapmap]
rs12887465	0.85[EUR][1000 genomes]
rs12888526	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12889849	0.88[CHB][hapmap]
rs1464307	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17106754	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs17106800	0.83[ASN][1000 genomes]
rs17106817	0.86[CHB][hapmap]
rs1710988	0.88[CEU][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs17836065	0.83[CEU][hapmap]
rs17836099	0.83[CEU][hapmap]
rs1890943	0.92[CEU][hapmap];0.85[TSI][hapmap];0.85[EUR][1000 genomes]
rs1890944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1965449	0.92[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2014607	0.83[CEU][hapmap]
rs2090711	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2090712	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2096023	0.89[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.85[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2102923	0.88[EUR][1000 genomes]
rs2102924	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2185490	0.83[CEU][hapmap]
rs2331953	1.00[CEU][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2331954	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs2331955	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3211166	0.88[CHB][hapmap];0.82[CHD][hapmap]
rs3742899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3742900	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4143922	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap]
rs4326982	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4899289	1.00[CEU][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4899290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4899292	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4902691	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4902698	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4902699	1.00[CEU][hapmap];0.85[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4902702	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4902703	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4902704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61980269	0.87[EUR][1000 genomes]
rs61981648	0.84[EUR][1000 genomes]
rs6573869	0.88[CHB][hapmap]
rs6573875	1.00[CEU][hapmap];0.85[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6573876	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6573877	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7148953	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7151331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7157772	0.92[CEU][hapmap];0.85[MEX][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7158145	0.88[CEU][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs7159186	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8007859	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008401	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8008735	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs8008829	1.00[CHB][hapmap]
rs8017744	1.00[CEU][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4243633	RAD51L1	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69658800-69702400	Weak transcription	Gastric	stomach
2	chr14:69659000-69702800	Weak transcription	Pancreas	Pancrea
3	chr14:69659200-69702600	Weak transcription	Primary B cells from cord blood	blood
4	chr14:69659200-69702800	Weak transcription	Colonic Mucosa	Colon
5	chr14:69660600-69717200	Weak transcription	Hela-S3	cervix
6	chr14:69674800-69702800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:69675200-69702800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:69676200-69703200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:69677000-69709600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr14:69677200-69702600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:69678400-69702200	Weak transcription	Fetal Brain Male	brain
12	chr14:69678400-69709200	Weak transcription	NHDF-Ad	bronchial
13	chr14:69678600-69703000	Weak transcription	NHEK	skin
14	chr14:69678600-69709200	Weak transcription	A549	lung
15	chr14:69680000-69702800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:69681200-69702800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:69688600-69707400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr14:69689000-69702800	Weak transcription	HepG2	liver
19	chr14:69689600-69703200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:69690200-69703000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr14:69690600-69703000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:69691400-69702800	Weak transcription	Spleen	Spleen
23	chr14:69692200-69702800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:69692800-69708400	Weak transcription	Stomach Mucosa	stomach
25	chr14:69693400-69703000	Weak transcription	Psoas Muscle	Psoas
26	chr14:69693800-69704600	Weak transcription	HSMMtube	muscle
27	chr14:69694000-69702800	Weak transcription	Right Ventricle	heart
28	chr14:69694000-69711200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:69694000-69721400	Weak transcription	HUVEC	blood vessel
30	chr14:69694000-69726000	Weak transcription	Right Atrium	heart
31	chr14:69694400-69704600	Weak transcription	Osteobl	bone
32	chr14:69695200-69708800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:69695600-69706000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:69695600-69708800	Strong transcription	Liver	Liver
35	chr14:69695800-69703000	Weak transcription	NHLF	lung
36	chr14:69696000-69703200	Weak transcription	Dnd41	blood
37	chr14:69696200-69702000	Weak transcription	Fetal Lung	lung
38	chr14:69696400-69708800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr14:69696600-69709600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr14:69697200-69702800	Weak transcription	GM12878-XiMat	blood
41	chr14:69697400-69702600	Weak transcription	Brain Substantia Nigra	brain
42	chr14:69697600-69702000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr14:69697600-69702600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr14:69697600-69702800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr14:69697600-69704000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr14:69697600-69704600	Weak transcription	Fetal Kidney	kidney
47	chr14:69698600-69706600	Weak transcription	Fetal Heart	heart
48	chr14:69698600-69709200	Strong transcription	Brain Angular Gyrus	brain
49	chr14:69698800-69707800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:69698800-69708000	Strong transcription	Fetal Intestine Large	intestine

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