Variant report

Variant	rs2096023
Chromosome Location	chr14:69664129-69664130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69657863..69661589-chr14:69662546..69665792,5	K562	blood:
2	chr14:69663607..69664625-chr17:41465681..41466259,3	Hela-S3	cervix:
3	chr14:69657863..69659379-chr14:69662546..69664576,2	K562	blood:
4	chr14:69662626..69665625-chr17:41464213..41466207,2	K562	blood:
5	chr14:69662625..69665625-chr3:73158387..73161450,4	K562	blood:
6	chr11:62609140..62610723-chr14:69664105..69665605,2	K562	blood:

Variant related genes	Relation type
ENSG00000223247	Chromatin interaction
ENSG00000258957	Chromatin interaction
ENSG00000081177	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10133226	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10133341	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134554	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10139153	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10139274	1.00[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10150493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158794	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11158796	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1147468	1.00[ASN][1000 genomes]
rs1147478	0.83[CEU][hapmap];0.80[TSI][hapmap];0.80[EUR][1000 genomes]
rs1147479	0.83[CEU][hapmap];0.80[TSI][hapmap];0.80[EUR][1000 genomes]
rs11848820	0.92[CEU][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275405	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs1275408	0.83[CEU][hapmap];0.80[TSI][hapmap];0.80[EUR][1000 genomes]
rs1275409	0.80[EUR][1000 genomes]
rs1275410	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs1275411	0.83[CEU][hapmap];0.80[TSI][hapmap]
rs1275418	0.80[EUR][1000 genomes]
rs1275420	0.89[ASW][hapmap];0.88[CEU][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12887465	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12888526	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1464307	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs1710988	0.88[CEU][hapmap];0.90[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17836065	0.83[CEU][hapmap];0.80[TSI][hapmap]
rs17836099	0.83[CEU][hapmap];0.80[TSI][hapmap]
rs1890942	1.00[ASN][1000 genomes]
rs1890943	0.92[CEU][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1890944	1.00[CEU][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1959759	0.81[EUR][1000 genomes]
rs1965449	0.92[CEU][hapmap];0.87[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2014607	0.83[CEU][hapmap];0.80[TSI][hapmap];0.80[EUR][1000 genomes]
rs2090711	0.92[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2090712	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2102923	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2102924	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153531	1.00[ASN][1000 genomes]
rs2185490	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs2331953	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331954	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2331955	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2331957	0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs35686041	1.00[ASN][1000 genomes]
rs3742899	1.00[CEU][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4243633	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]
rs4326982	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899284	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4899289	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899292	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4902699	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902702	0.92[CEU][hapmap];1.00[GIH][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4902703	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902704	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902708	1.00[ASN][1000 genomes]
rs4902712	1.00[ASN][1000 genomes]
rs61980269	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61981648	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573875	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573876	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6573877	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148953	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150127	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7150195	1.00[ASN][1000 genomes]
rs7151090	0.84[AMR][1000 genomes]
rs7151331	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7151827	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7157772	0.89[ASW][hapmap];0.92[CEU][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.93[TSI][hapmap];0.90[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158145	0.88[CEU][hapmap];0.90[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159186	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004722	1.00[ASN][1000 genomes]
rs8007859	0.89[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.85[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8008401	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008878	1.00[ASN][1000 genomes]
rs8016075	1.00[ASN][1000 genomes]
rs8017744	1.00[CEU][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs897325	1.00[ASN][1000 genomes]
rs897327	1.00[ASN][1000 genomes]
rs897328	1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2096023	RAD51L1	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69658800-69673200	Weak transcription	Spleen	Spleen
2	chr14:69658800-69695600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:69658800-69702400	Weak transcription	Gastric	stomach
4	chr14:69659000-69664200	Weak transcription	Psoas Muscle	Psoas
5	chr14:69659000-69672800	Weak transcription	Esophagus	oesophagus
6	chr14:69659000-69676200	Weak transcription	Left Ventricle	heart
7	chr14:69659000-69677000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:69659000-69679800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:69659000-69695400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:69659000-69695400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:69659000-69702800	Weak transcription	Pancreas	Pancrea
12	chr14:69659200-69672800	Weak transcription	Fetal Stomach	stomach
13	chr14:69659200-69673200	Weak transcription	Ovary	ovary
14	chr14:69659200-69676200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr14:69659200-69676400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:69659200-69679200	Weak transcription	Fetal Muscle Leg	muscle
17	chr14:69659200-69679400	Weak transcription	Aorta	Aorta
18	chr14:69659200-69695600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:69659200-69702600	Weak transcription	Primary B cells from cord blood	blood
20	chr14:69659200-69702800	Weak transcription	Colonic Mucosa	Colon
21	chr14:69659400-69666600	Weak transcription	Fetal Kidney	kidney
22	chr14:69659400-69666800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr14:69659400-69667600	Weak transcription	NH-A	brain
24	chr14:69659400-69670600	Weak transcription	Brain Germinal Matrix	brain
25	chr14:69659400-69675000	Weak transcription	Fetal Intestine Large	intestine
26	chr14:69659400-69676000	Weak transcription	Brain Anterior Caudate	brain
27	chr14:69659400-69676600	Weak transcription	Adipose Nuclei	Adipose
28	chr14:69659400-69678600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:69659400-69679200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:69659400-69695600	Weak transcription	HSMM	muscle
31	chr14:69659600-69671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:69659600-69673000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:69659600-69676200	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:69659600-69676200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:69659600-69676400	Weak transcription	Fetal Heart	heart
36	chr14:69659600-69676600	Weak transcription	Fetal Lung	lung
37	chr14:69659600-69679400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:69659600-69695200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr14:69659600-69695400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:69659800-69671000	Weak transcription	NHEK	skin
41	chr14:69659800-69671400	Weak transcription	HMEC	breast
42	chr14:69659800-69672800	Weak transcription	Fetal Intestine Small	intestine
43	chr14:69659800-69675200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:69659800-69675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:69659800-69676200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:69659800-69676200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:69659800-69676200	Weak transcription	Brain Angular Gyrus	brain
48	chr14:69659800-69676400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr14:69659800-69676400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:69659800-69676400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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