Variant report

Variant	rs2001355
Chromosome Location	chr14:69561193-69561194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69445487..69447577-chr14:69560002..69561748,2	K562	blood:
2	chr14:69558940..69562138-chr14:69562200..69566674,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1013762	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs10146649	0.87[ASN][1000 genomes]
rs10148349	0.81[GIH][hapmap]
rs10498527	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1105625	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11158784	0.83[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11158785	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11158786	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11158788	0.82[EUR][1000 genomes]
rs11158789	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1147481	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11626985	1.00[JPT][hapmap]
rs11627004	1.00[JPT][hapmap]
rs11627476	1.00[JPT][hapmap]
rs11628126	0.87[CEU][hapmap];0.87[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs1275407	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1275413	0.84[EUR][1000 genomes]
rs1275414	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1275415	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1275417	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1275419	0.92[GIH][hapmap]
rs1626122	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1629783	1.00[CHB][hapmap];0.89[GIH][hapmap]
rs1710989	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1710990	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1710993	1.00[CHB][hapmap]
rs1892297	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1914004	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1950712	1.00[JPT][hapmap]
rs2176255	1.00[JPT][hapmap]
rs2331918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3742905	1.00[JPT][hapmap]
rs4899280	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4902695	0.91[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs7141235	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7144704	1.00[JPT][hapmap]
rs8008141	1.00[JPT][hapmap]
rs9323521	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2001355	RAD51L1	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:69535600-69565200	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr14:69542600-69570600	Strong transcription	Primary T cells from cord blood	blood
4	chr14:69546000-69563200	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:69546200-69583000	Weak transcription	Psoas Muscle	Psoas
6	chr14:69548000-69563000	Strong transcription	Fetal Thymus	thymus
7	chr14:69548000-69563600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr14:69548200-69567400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:69550000-69568000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:69558200-69563600	Weak transcription	Fetal Brain Male	brain
11	chr14:69558600-69561800	Weak transcription	Fetal Kidney	kidney
12	chr14:69558600-69564600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:69558600-69569600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:69558600-69570400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:69558600-69572000	Weak transcription	Brain Germinal Matrix	brain
16	chr14:69558600-69578600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:69558800-69562200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:69558800-69564400	Weak transcription	Thymus	Thymus
19	chr14:69558800-69565200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:69558800-69567800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:69558800-69569400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:69558800-69569600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr14:69558800-69570000	Weak transcription	Fetal Brain Female	brain
24	chr14:69558800-69572000	Weak transcription	Esophagus	oesophagus
25	chr14:69558800-69572000	Weak transcription	Spleen	Spleen
26	chr14:69558800-69581600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:69558800-69582000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:69558800-69595800	Weak transcription	Hela-S3	cervix
29	chr14:69559000-69561800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:69559000-69564200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:69559000-69566200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:69559000-69569600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:69559000-69583800	Weak transcription	Colonic Mucosa	Colon
34	chr14:69559200-69562200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:69559200-69562400	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:69559200-69567800	Weak transcription	Liver	Liver
37	chr14:69559200-69569400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr14:69559400-69561600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr14:69559400-69561800	Enhancers	NHLF	lung
40	chr14:69559400-69564000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:69559600-69561400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr14:69559600-69561600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:69559600-69562200	Enhancers	Osteobl	bone
44	chr14:69559600-69564000	Enhancers	HepG2	liver
45	chr14:69559800-69561200	Enhancers	HSMM	muscle
46	chr14:69559800-69561400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr14:69559800-69561400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:69559800-69561400	Enhancers	A549	lung
49	chr14:69559800-69561400	Enhancers	NHEK	skin
50	chr14:69559800-69561600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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