Variant report

Variant	rs7561104
Chromosome Location	chr2:98475107-98475108
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	chr2:98460157..98461812-chr2:98473949..98476657,2	MCF-7	breast:
2	chr2:98469026..98470967-chr2:98475070..98477948,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10176201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182941	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10200949	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10211231	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1071885	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10865055	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11123924	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123949	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123966	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11690482	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11693874	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11888323	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11899171	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12712123	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12712174	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13003978	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13006817	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13008503	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13010946	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13022778	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13034644	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1317178	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13405546	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1466020	0.94[CEU][hapmap];0.80[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1466924	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1503200	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1922280	0.95[ASN][1000 genomes]
rs1922282	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2017028	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2091772	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2100058	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2141862	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279825	0.83[ASN][1000 genomes]
rs2279826	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs2305142	0.88[JPT][hapmap]
rs2309316	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2309317	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2309356	0.87[ASN][1000 genomes]
rs3762593	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4274643	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4560167	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5865	0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs6543108	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6543109	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6543161	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6543177	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6543202	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6543210	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6707924	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6709571	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6710813	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6712517	0.84[CEU][hapmap]
rs6719556	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6723466	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6723653	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6744331	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748809	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6748927	0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7558931	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7562695	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7567397	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7574437	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577886	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7582664	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7586210	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[ASN][1000 genomes]
rs7598116	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7602412	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7605180	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs930607	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9308862	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs956696	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9973416	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7561104	ANKRD36B	cis	Nerve Tibial	GTEx
rs7561104	TMEM131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
2	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
3	chr2:98428800-98485000	Weak transcription	NHLF	lung
4	chr2:98434200-98484000	Weak transcription	NHDF-Ad	bronchial
5	chr2:98434400-98485800	Weak transcription	Lung	lung
6	chr2:98447800-98479600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:98447800-98502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:98449600-98482000	Weak transcription	Fetal Kidney	kidney
9	chr2:98457000-98477400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:98457000-98477400	Weak transcription	Esophagus	oesophagus
11	chr2:98457000-98478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:98457000-98485600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:98457200-98485800	Weak transcription	Brain Anterior Caudate	brain
14	chr2:98457400-98485800	Weak transcription	Aorta	Aorta
15	chr2:98457600-98475200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:98457600-98477600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:98457600-98485400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:98457800-98475200	Weak transcription	Thymus	Thymus
19	chr2:98457800-98478000	Weak transcription	Colonic Mucosa	Colon
20	chr2:98457800-98485200	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:98458200-98486000	Weak transcription	Ovary	ovary
22	chr2:98458200-98486800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:98458400-98478000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:98458600-98485600	Weak transcription	Placenta	Placenta
25	chr2:98459200-98477200	Weak transcription	Fetal Lung	lung
26	chr2:98459400-98485000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:98460000-98486000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:98461400-98477200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:98461600-98480000	Weak transcription	Brain Germinal Matrix	brain
30	chr2:98461600-98485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:98461800-98477600	Weak transcription	Right Ventricle	heart
32	chr2:98462800-98485600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:98465000-98481400	Weak transcription	HSMMtube	muscle
34	chr2:98466600-98485600	Weak transcription	Brain Angular Gyrus	brain
35	chr2:98467000-98478000	Weak transcription	HSMM	muscle
36	chr2:98467000-98484000	Weak transcription	Psoas Muscle	Psoas
37	chr2:98467000-98484800	Weak transcription	NH-A	brain
38	chr2:98467000-98485000	Weak transcription	Osteobl	bone
39	chr2:98467000-98486800	Weak transcription	K562	blood
40	chr2:98467200-98484200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:98468400-98486400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr2:98468600-98478600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr2:98468600-98486200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr2:98469000-98479200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:98469000-98485000	Weak transcription	Fetal Thymus	thymus
46	chr2:98469200-98477000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr2:98469200-98486000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:98469400-98486600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:98469600-98476600	Weak transcription	Stomach Mucosa	stomach
50	chr2:98469600-98477600	Weak transcription	Primary hematopoietic stem cells	blood

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