Variant report

Variant	rs6723653
Chromosome Location	chr2:98503726-98503727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10176201	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10182941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10194485	1.00[YRI][hapmap]
rs10200949	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10211231	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1071885	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10865055	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs11123924	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11123949	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11123966	0.92[ASN][1000 genomes]
rs11690482	0.92[ASN][1000 genomes]
rs11693874	0.88[ASN][1000 genomes]
rs11888323	0.92[ASN][1000 genomes]
rs11899171	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12712123	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12712174	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12712176	0.81[ASN][1000 genomes]
rs13003978	0.92[ASN][1000 genomes]
rs13006817	0.92[ASN][1000 genomes]
rs13008503	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13010946	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13022778	0.92[ASN][1000 genomes]
rs13034644	0.91[ASN][1000 genomes]
rs1317178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13405546	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1466020	0.94[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1466924	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1503200	0.92[ASN][1000 genomes]
rs1922280	0.98[ASN][1000 genomes]
rs1922282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2017028	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2091772	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2100058	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2141862	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2279825	0.86[ASN][1000 genomes]
rs2279826	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2305142	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs2309316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2309317	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2309356	0.90[ASN][1000 genomes]
rs3088327	0.82[ASN][1000 genomes]
rs3762593	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4274643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4560167	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5865	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs6543108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6543109	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6543161	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6543177	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6543202	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6543210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6707924	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6709571	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6710813	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6712517	0.84[CEU][hapmap]
rs6719556	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6723466	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6744331	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6748809	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6748927	0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7558931	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7561104	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562695	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7567397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7574437	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7577886	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7582664	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586210	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7598116	0.92[ASN][1000 genomes]
rs7602412	0.88[ASN][1000 genomes]
rs7605180	0.92[ASN][1000 genomes]
rs930607	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9308862	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs956696	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9973416	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[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
rs6723653	TMEM131	Cis_1M	lymphoblastoid	RTeQTL
rs6723653	ANKRD36B	cis	Nerve Tibial	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98500800-98504000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:98500800-98505000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:98500800-98505000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:98500800-98505400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:98501000-98503800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr2:98501000-98503800	ZNF genes & repeats	HSMM	muscle
7	chr2:98501000-98504000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:98501000-98504000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:98501000-98504000	ZNF genes & repeats	Primary B cells from cord blood	blood
10	chr2:98501000-98504000	ZNF genes & repeats	Fetal Brain Female	brain
11	chr2:98501000-98504600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:98501200-98504000	ZNF genes & repeats	Fetal Intestine Large	intestine
13	chr2:98501200-98505200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr2:98501400-98504000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr2:98501600-98504000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:98501600-98504000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr2:98501600-98504000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
18	chr2:98501600-98504200	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr2:98501600-98504800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:98502000-98503800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr2:98502000-98503800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr2:98502000-98503800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
23	chr2:98502000-98503800	ZNF genes & repeats	HSMMtube	muscle
24	chr2:98502000-98503800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr2:98502000-98504000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr2:98502000-98504200	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr2:98502000-98504400	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:98502000-98504600	ZNF genes & repeats	Dnd41	blood
29	chr2:98502000-98505000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:98502200-98503800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
31	chr2:98502200-98503800	ZNF genes & repeats	Liver	Liver
32	chr2:98502200-98503800	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr2:98502200-98504000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
34	chr2:98502200-98504000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr2:98502200-98504000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:98502200-98504000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:98502200-98504000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:98502200-98504200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:98502400-98504000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:98502400-98504600	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr2:98502600-98503800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:98502600-98503800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:98502600-98503800	Strong transcription	HMEC	breast
44	chr2:98502600-98504600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:98502600-98504600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:98502600-98504600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:98502600-98505400	ZNF genes & repeats	GM12878-XiMat	blood
48	chr2:98502800-98503800	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr2:98502800-98503800	ZNF genes & repeats	Placenta	Placenta
50	chr2:98502800-98503800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon

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