Variant report

Variant	rs9316429
Chromosome Location	chr13:49634929-49634930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49548847..49551677-chr13:49633338..49635251,2	K562	blood:
2	chr13:49548698..49552354-chr13:49633913..49636847,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102531	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs12872974	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1359066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[ASN][1000 genomes]
rs1407827	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1407829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[ASN][1000 genomes]
rs1535922	0.82[CHB][hapmap]
rs1928109	0.87[CHB][hapmap]
rs1928110	0.90[ASN][1000 genomes]
rs1937180	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs1937181	0.87[CHB][hapmap]
rs1983805	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs2021622	0.82[ASN][1000 genomes]
rs2026029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.86[ASN][1000 genomes]
rs2146748	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2149498	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2181537	0.83[ASN][1000 genomes]
rs2181538	0.83[ASN][1000 genomes]
rs2181539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2183095	0.91[CHB][hapmap]
rs2407266	0.91[CHB][hapmap]
rs2897633	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2897689	1.00[YRI][hapmap]
rs2987528	0.91[CHB][hapmap]
rs2987532	0.91[CHB][hapmap]
rs2994377	0.91[CHB][hapmap]
rs2994378	0.91[CHB][hapmap]
rs2994379	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs2994380	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs2994381	0.83[ASN][1000 genomes]
rs3012116	0.91[CHB][hapmap]
rs3012117	0.91[CHB][hapmap]
rs3012121	0.91[CHB][hapmap]
rs3012127	0.87[CHB][hapmap];0.83[ASN][1000 genomes]
rs3012133	0.91[CHB][hapmap]
rs3012136	0.91[CHB][hapmap]
rs4142065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4258502	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs4530025	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4942796	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs4942798	0.86[ASN][1000 genomes]
rs4942799	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[ASN][1000 genomes]
rs4942800	0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.83[ASN][1000 genomes]
rs6561491	0.81[ASN][1000 genomes]
rs6561493	0.83[ASN][1000 genomes]
rs6561496	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6561497	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6561504	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap]
rs7139854	0.90[ASN][1000 genomes]
rs720627	0.91[CHB][hapmap]
rs728075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs7318871	0.83[ASN][1000 genomes]
rs7328000	0.97[ASN][1000 genomes]
rs7329291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs7333097	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7333285	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs7338529	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7983885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[ASN][1000 genomes]
rs7986624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7987258	0.83[CHB][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.82[ASN][1000 genomes]
rs7988168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7989175	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7994368	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs7994910	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7995616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[ASN][1000 genomes]
rs7997118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs7998359	0.86[CHB][hapmap]
rs7999513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs8248	0.89[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes]
rs9316426	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs9316428	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9526518	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs9526520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[ASN][1000 genomes]
rs9526521	0.89[ASN][1000 genomes]
rs9535126	0.87[CHB][hapmap]
rs9535133	0.89[ASN][1000 genomes]
rs9535136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9535140	0.83[ASN][1000 genomes]
rs9535141	0.82[ASN][1000 genomes]
rs9535145	0.91[CHB][hapmap]
rs9535146	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9535147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs9535149	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9535154	0.91[CHB][hapmap]
rs9535155	0.91[CHB][hapmap]
rs9535156	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9535166	0.91[CHB][hapmap]
rs9535167	0.91[CHB][hapmap]
rs9562866	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9562870	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs9568143	0.92[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs9568150	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9568151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9568154	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9591235	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	esv1803100	chr13:49576474-49655941	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3407529	chr13:49634576-49637124	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3447421	chr13:49634601-49637099	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49551400-49638800	Weak transcription	Pancreas	Pancrea
2	chr13:49582200-49659000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr13:49584200-49649200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:49592800-49649600	Weak transcription	Fetal Intestine Large	intestine
5	chr13:49594800-49636000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr13:49598000-49650200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr13:49599000-49649200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr13:49601800-49660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:49603200-49649200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr13:49603200-49652200	Weak transcription	Dnd41	blood
11	chr13:49604800-49636400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:49605200-49643400	Weak transcription	HSMM	muscle
13	chr13:49608800-49638800	Weak transcription	Ovary	ovary
14	chr13:49608800-49658800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr13:49618600-49636000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr13:49620600-49636200	Weak transcription	Primary T cells from cord blood	blood
17	chr13:49625600-49636600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:49625600-49642600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:49626000-49636200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:49626200-49650200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr13:49627200-49636800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr13:49627200-49656800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:49627400-49635200	Weak transcription	Right Ventricle	heart
24	chr13:49627400-49635600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:49627400-49638600	Weak transcription	Left Ventricle	heart
26	chr13:49627400-49656800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:49627400-49672400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:49627600-49635200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:49628200-49636800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr13:49628200-49639000	Weak transcription	Colon Smooth Muscle	Colon
31	chr13:49628600-49635200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:49628600-49656600	Weak transcription	Thymus	Thymus
33	chr13:49628800-49638800	Weak transcription	Primary B cells from cord blood	blood
34	chr13:49628800-49657000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr13:49629000-49635600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:49629000-49665600	Weak transcription	Lung	lung
37	chr13:49629200-49650200	Weak transcription	Fetal Muscle Leg	muscle
38	chr13:49629600-49649400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr13:49629600-49650000	Weak transcription	Fetal Stomach	stomach
40	chr13:49629600-49665400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:49630000-49650600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr13:49630200-49642800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr13:49630200-49656800	Weak transcription	Aorta	Aorta
44	chr13:49630400-49664000	Weak transcription	Fetal Intestine Small	intestine
45	chr13:49630600-49636400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr13:49630800-49636000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:49632200-49664800	Weak transcription	Fetal Lung	lung
48	chr13:49632400-49636000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr13:49632800-49640400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr13:49633000-49636200	Weak transcription	Primary hematopoietic stem cells	blood

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