Variant report

Variant	rs7998359
Chromosome Location	chr13:49558113-49558114
allele	A/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	MAZ	chr13:49558084-49558142	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49546080..49548216-chr13:49556766..49558384,2	MCF-7	breast:
2	chr13:49557531..49560266-chr13:49567032..49569097,2	K562	blood:

Variant related genes	Relation type
RNU6-60P	TF binding region

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs12872974	0.83[EUR][1000 genomes]
rs1359066	0.95[CEU][hapmap];0.90[CHB][hapmap];0.83[EUR][1000 genomes]
rs1407827	0.95[CEU][hapmap];0.90[CHB][hapmap]
rs1407829	0.95[CEU][hapmap];0.90[CHB][hapmap];0.80[EUR][1000 genomes]
rs1928109	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1928110	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1937180	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1937181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1983805	0.95[CEU][hapmap];0.90[CHB][hapmap]
rs2021622	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2026029	0.95[CEU][hapmap];0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2146748	1.00[CEU][hapmap];0.90[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2149498	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2181537	0.82[EUR][1000 genomes]
rs2181538	0.82[EUR][1000 genomes]
rs2181539	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes]
rs2183095	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2407265	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2407266	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2897633	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2987528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2987530	0.88[JPT][hapmap]
rs2987532	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2987533	0.88[JPT][hapmap]
rs2987535	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2994378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2994379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2994380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2994381	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3012116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3012117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3012118	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3012121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3012127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3012133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3012135	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3012136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4142065	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4530025	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4942795	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4942796	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4942798	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4942799	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4942800	0.95[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs6561491	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6561493	0.84[EUR][1000 genomes]
rs6561496	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[EUR][1000 genomes]
rs6561497	0.90[CHB][hapmap]
rs6561504	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs7139854	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs720627	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs728075	0.91[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7318871	0.83[EUR][1000 genomes]
rs7322842	0.83[ASN][1000 genomes]
rs7325026	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7328000	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7329291	0.95[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7331917	0.84[EUR][1000 genomes]
rs7333097	0.90[CHB][hapmap]
rs7338529	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs7983885	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7986624	0.87[CEU][hapmap];0.86[CHB][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7987258	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7988168	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7989175	0.90[CHB][hapmap]
rs7994910	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7995616	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7997118	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7999513	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9316426	0.95[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9316427	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9316428	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9316429	0.86[CHB][hapmap]
rs9526517	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9526518	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9526520	0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9526521	0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9535126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535133	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9535136	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9535140	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9535141	0.84[EUR][1000 genomes]
rs9535145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs9535146	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9535147	0.95[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs9535149	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9535154	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9535155	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9535156	0.95[CEU][hapmap];0.86[CHB][hapmap]
rs9535166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs9562866	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9562870	0.95[CEU][hapmap];0.90[CHB][hapmap]
rs9568150	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9568151	1.00[CEU][hapmap];0.86[CHB][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9568154	0.85[CHB][hapmap]
rs9591235	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1034	chr13:49526761-49572727	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv900067	chr13:49552271-49594818	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49551400-49638800	Weak transcription	Pancreas	Pancrea
2	chr13:49551800-49569400	Weak transcription	Psoas Muscle	Psoas
3	chr13:49552200-49570400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:49553400-49564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:49553600-49562400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:49553600-49596200	Weak transcription	Ovary	ovary
7	chr13:49553800-49559800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:49554000-49559200	Weak transcription	HSMM	muscle
9	chr13:49554000-49565200	Weak transcription	Osteobl	bone
10	chr13:49554200-49559800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr13:49554200-49564600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:49554200-49565400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:49554200-49573000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:49554200-49573200	Weak transcription	NHDF-Ad	bronchial
15	chr13:49554400-49567400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr13:49554400-49568600	Weak transcription	Placenta	Placenta
17	chr13:49554600-49564600	Weak transcription	Fetal Intestine Small	intestine
18	chr13:49554600-49565600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:49554600-49568600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr13:49555000-49559800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr13:49555000-49560000	Weak transcription	Small Intestine	intestine
22	chr13:49555000-49562000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr13:49555000-49564200	Weak transcription	Primary T cells from cord blood	blood
24	chr13:49555000-49569200	Weak transcription	HMEC	breast
25	chr13:49555000-49573000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr13:49555000-49581600	Weak transcription	Left Ventricle	heart
27	chr13:49555200-49563200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:49555200-49564800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr13:49555400-49559800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr13:49555400-49560000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr13:49555400-49563400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr13:49555600-49560000	Weak transcription	Primary B cells from cord blood	blood
33	chr13:49555600-49564800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr13:49555800-49559800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr13:49555800-49563000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr13:49556200-49559800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:49556600-49558200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:49557000-49561600	Weak transcription	Hela-S3	cervix
39	chr13:49557000-49579800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:49557000-49626800	Weak transcription	Right Ventricle	heart
41	chr13:49557200-49559800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr13:49557200-49560000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr13:49557200-49563200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr13:49557200-49573200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:49557800-49561800	Weak transcription	Brain Anterior Caudate	brain
46	chr13:49557800-49563400	Weak transcription	Liver	Liver
47	chr13:49557800-49567000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr13:49558000-49558600	ZNF genes & repeats	GM12878-XiMat	blood
49	chr13:49558000-49559200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr13:49558000-49559400	Weak transcription	Colon Smooth Muscle	Colon

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