Variant report

Variant	rs723742
Chromosome Location	chr6:101237174-101237175
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101235770..101239248-chr6:101239414..101244156,4	K562	blood:

Extended variants
information (count: 199 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:187)

rs_ID	r²[population]
rs10223467	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1039030	0.89[EUR][1000 genomes]
rs1039031	0.84[EUR][1000 genomes]
rs1039032	0.84[EUR][1000 genomes]
rs10457077	0.88[EUR][1000 genomes]
rs10457844	0.88[EUR][1000 genomes]
rs10457849	0.89[EUR][1000 genomes]
rs1070990	0.87[EUR][1000 genomes]
rs10872622	0.84[EUR][1000 genomes]
rs10872628	0.88[EUR][1000 genomes]
rs10872634	0.89[EUR][1000 genomes]
rs1099916	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11155613	0.94[EUR][1000 genomes]
rs11155618	0.88[EUR][1000 genomes]
rs11155623	0.87[EUR][1000 genomes]
rs11155635	0.89[EUR][1000 genomes]
rs11155636	0.89[EUR][1000 genomes]
rs11155637	0.89[EUR][1000 genomes]
rs11155638	0.89[EUR][1000 genomes]
rs11155653	0.90[EUR][1000 genomes]
rs11155659	0.90[EUR][1000 genomes]
rs11155661	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11155666	0.90[EUR][1000 genomes]
rs11155673	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11752659	0.89[EUR][1000 genomes]
rs11755579	0.89[CHB][hapmap]
rs11756783	0.95[ASN][1000 genomes]
rs11758174	0.89[CHB][hapmap]
rs11758891	0.97[ASN][1000 genomes]
rs11967951	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12174806	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12175456	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12194255	0.84[EUR][1000 genomes]
rs12195369	0.89[EUR][1000 genomes]
rs12202621	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12206838	0.89[EUR][1000 genomes]
rs12209777	0.84[EUR][1000 genomes]
rs12209887	0.84[EUR][1000 genomes]
rs12210255	0.88[EUR][1000 genomes]
rs12210550	0.90[EUR][1000 genomes]
rs12212435	0.88[EUR][1000 genomes]
rs12213201	0.88[EUR][1000 genomes]
rs12215909	0.95[EUR][1000 genomes]
rs12216304	0.82[EUR][1000 genomes]
rs12525128	0.98[ASN][1000 genomes]
rs12525818	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12526352	0.95[ASN][1000 genomes]
rs12528607	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12664626	0.88[EUR][1000 genomes]
rs13196803	0.88[EUR][1000 genomes]
rs13201267	0.94[ASN][1000 genomes]
rs13208757	0.88[EUR][1000 genomes]
rs13217436	0.97[ASN][1000 genomes]
rs1336242	0.92[EUR][1000 genomes]
rs1336244	0.89[EUR][1000 genomes]
rs1336245	0.89[EUR][1000 genomes]
rs1414734	0.95[EUR][1000 genomes]
rs151638	0.83[EUR][1000 genomes]
rs151640	0.83[EUR][1000 genomes]
rs17190683	0.96[ASN][1000 genomes]
rs17794439	0.98[ASN][1000 genomes]
rs180963	0.83[EUR][1000 genomes]
rs1813223	0.89[CHB][hapmap]
rs183566	0.84[EUR][1000 genomes]
rs2050549	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2101814	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2132168	0.88[EUR][1000 genomes]
rs2132169	0.88[EUR][1000 genomes]
rs2134044	0.93[ASN][1000 genomes]
rs239208	0.84[EUR][1000 genomes]
rs239209	0.84[EUR][1000 genomes]
rs239215	0.84[EUR][1000 genomes]
rs239218	0.81[EUR][1000 genomes]
rs239234	0.83[EUR][1000 genomes]
rs239236	0.83[EUR][1000 genomes]
rs240111	0.81[EUR][1000 genomes]
rs240151	0.80[EUR][1000 genomes]
rs240152	0.80[EUR][1000 genomes]
rs34759265	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35168784	0.88[EUR][1000 genomes]
rs35967345	0.88[EUR][1000 genomes]
rs3811078	0.92[CEU][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3818233	0.93[ASN][1000 genomes]
rs41288423	0.84[EUR][1000 genomes]
rs4463266	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4571568	0.90[EUR][1000 genomes]
rs4839789	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4839792	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4840147	0.88[EUR][1000 genomes]
rs4840148	0.88[EUR][1000 genomes]
rs4840150	0.94[EUR][1000 genomes]
rs4840151	0.88[EUR][1000 genomes]
rs4840153	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4840154	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4840155	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4840157	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs4840159	0.84[CEU][hapmap]
rs62422070	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6570922	0.88[EUR][1000 genomes]
rs6570930	0.88[EUR][1000 genomes]
rs6570969	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570970	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904959	0.82[EUR][1000 genomes]
rs6905113	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6907444	0.84[EUR][1000 genomes]
rs6909880	0.88[EUR][1000 genomes]
rs6916468	0.84[EUR][1000 genomes]
rs6919283	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6919745	0.81[CEU][hapmap]
rs6925065	0.94[EUR][1000 genomes]
rs6925316	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6925823	0.87[EUR][1000 genomes]
rs6925840	0.90[EUR][1000 genomes]
rs6927598	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932158	0.93[EUR][1000 genomes]
rs705583	0.87[EUR][1000 genomes]
rs705584	0.87[EUR][1000 genomes]
rs705585	0.87[EUR][1000 genomes]
rs705586	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs723743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7451736	0.88[EUR][1000 genomes]
rs7740783	0.91[EUR][1000 genomes]
rs7742011	0.92[EUR][1000 genomes]
rs7746947	0.88[EUR][1000 genomes]
rs7746961	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7747014	0.89[EUR][1000 genomes]
rs7748644	0.84[EUR][1000 genomes]
rs7753317	0.87[EUR][1000 genomes]
rs7754085	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7759463	0.96[ASN][1000 genomes]
rs7768210	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7771570	0.84[CEU][hapmap]
rs846778	0.90[EUR][1000 genomes]
rs846799	0.89[EUR][1000 genomes]
rs846800	0.87[EUR][1000 genomes]
rs846803	0.87[EUR][1000 genomes]
rs9322173	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322174	0.93[EUR][1000 genomes]
rs9322181	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9322182	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9322183	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9322212	0.92[CEU][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9322213	0.93[EUR][1000 genomes]
rs9322216	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9373571	0.94[ASN][1000 genomes]
rs9373574	0.96[ASN][1000 genomes]
rs9373590	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9377085	0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs9377193	0.94[ASN][1000 genomes]
rs9377214	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9377232	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9377234	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9377235	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9377241	0.87[CHB][hapmap]
rs9386250	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9386257	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9390502	0.92[ASN][1000 genomes]
rs9390626	0.96[ASN][1000 genomes]
rs9390675	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9390679	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9390681	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9390682	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9390685	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9390693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390695	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9390698	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs9399641	0.95[ASN][1000 genomes]
rs9399656	0.96[ASN][1000 genomes]
rs9399685	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9399688	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9399694	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9403962	0.96[ASN][1000 genomes]
rs9404016	0.94[EUR][1000 genomes]
rs9404022	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9404031	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9404033	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9404045	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9404049	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9404052	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9404053	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9404054	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9485410	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9485411	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9498252	0.93[EUR][1000 genomes]
rs9498390	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs964223	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs979122	0.94[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv886445	chr6:101004751-101240763	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv886456	chr6:101049108-101277926	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv604275	chr6:101158950-101277926	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1016353	chr6:101172705-101304041	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1024526	chr6:101192726-101241291	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
2	chr6:101191400-101277000	Weak transcription	Esophagus	oesophagus
3	chr6:101212000-101246400	Weak transcription	Psoas Muscle	Psoas
4	chr6:101212000-101276200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:101212000-101281400	Weak transcription	Aorta	Aorta
6	chr6:101213200-101242800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:101213400-101244000	Weak transcription	HSMMtube	muscle
8	chr6:101213600-101241600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr6:101213600-101256000	Weak transcription	Ovary	ovary
10	chr6:101213600-101281600	Weak transcription	Gastric	stomach
11	chr6:101213800-101250800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:101213800-101254200	Weak transcription	Fetal Thymus	thymus
13	chr6:101214800-101281600	Weak transcription	Left Ventricle	heart
14	chr6:101215200-101237400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:101215200-101242200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:101215200-101244000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr6:101215200-101244000	Weak transcription	Liver	Liver
18	chr6:101215200-101244000	Weak transcription	Placenta	Placenta
19	chr6:101215200-101247000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr6:101215200-101252600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:101215200-101256200	Weak transcription	Osteobl	bone
22	chr6:101215200-101263000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:101215200-101311400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:101215400-101239800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:101215400-101242000	Weak transcription	Primary B cells from cord blood	blood
26	chr6:101215400-101243400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:101215400-101243400	Weak transcription	NHDF-Ad	bronchial
28	chr6:101215400-101243600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:101215400-101243600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:101215400-101244000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:101215400-101244000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:101215400-101258600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:101215600-101242400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:101215600-101242600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr6:101216200-101241800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:101223000-101244200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:101223000-101256800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:101223400-101242200	Weak transcription	NH-A	brain
39	chr6:101223400-101243600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:101226000-101243600	Weak transcription	HSMM	muscle
41	chr6:101226000-101281400	Weak transcription	HUVEC	blood vessel
42	chr6:101226600-101237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:101231200-101242800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:101231800-101237600	Weak transcription	Dnd41	blood
45	chr6:101232000-101255200	Weak transcription	NHLF	lung
46	chr6:101233400-101244000	Weak transcription	HMEC	breast
47	chr6:101233600-101240800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:101233600-101306600	Weak transcription	K562	blood
49	chr6:101233800-101265200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr6:101234200-101237800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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