Variant report

Variant	rs7748644
Chromosome Location	chr6:101166809-101166810
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:101166704..101169523-chr6:101191232..101192828,2	K562	blood:
2	chr6:101165938..101169618-chr6:101169739..101172714,3	K562	blood:
3	chr6:101163027..101165840-chr6:101165855..101168378,2	K562	blood:
4	chr6:101162028..101164995-chr6:101165855..101170689,5	K562	blood:

Extended variants
information (count: 191 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs1006398	0.80[ASN][1000 genomes]
rs1039030	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1039031	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1039032	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10457077	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10457844	0.86[EUR][1000 genomes]
rs10457849	0.81[EUR][1000 genomes]
rs10872622	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10872623	0.81[EUR][1000 genomes]
rs10872628	0.86[EUR][1000 genomes]
rs10872634	0.85[EUR][1000 genomes]
rs1099916	0.82[EUR][1000 genomes]
rs11155596	0.92[EUR][1000 genomes]
rs11155606	0.92[EUR][1000 genomes]
rs11155610	0.91[EUR][1000 genomes]
rs11155613	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11155618	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11155623	0.84[EUR][1000 genomes]
rs11155635	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11155636	0.85[EUR][1000 genomes]
rs11155637	0.85[EUR][1000 genomes]
rs11155638	0.85[EUR][1000 genomes]
rs11155653	0.84[EUR][1000 genomes]
rs11155659	0.84[EUR][1000 genomes]
rs11155666	0.84[EUR][1000 genomes]
rs11752659	0.83[EUR][1000 genomes]
rs11967951	0.84[EUR][1000 genomes]
rs12193960	0.92[EUR][1000 genomes]
rs12194255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195369	0.85[EUR][1000 genomes]
rs12199888	0.92[EUR][1000 genomes]
rs12201852	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12206838	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12207086	0.92[EUR][1000 genomes]
rs12209777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12209887	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12210255	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12210550	0.83[EUR][1000 genomes]
rs12212435	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12212736	0.92[EUR][1000 genomes]
rs12213201	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12214151	0.92[EUR][1000 genomes]
rs12215909	0.88[EUR][1000 genomes]
rs12216199	0.92[EUR][1000 genomes]
rs12216304	0.89[EUR][1000 genomes]
rs12528607	0.83[EUR][1000 genomes]
rs12660725	0.88[CEU][hapmap]
rs12664626	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13196803	0.86[EUR][1000 genomes]
rs13208757	0.96[EUR][1000 genomes]
rs1336242	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1336244	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1336245	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1414734	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs151572	0.90[EUR][1000 genomes]
rs151573	0.89[EUR][1000 genomes]
rs151637	0.90[EUR][1000 genomes]
rs151638	0.97[EUR][1000 genomes]
rs151640	0.97[EUR][1000 genomes]
rs180963	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183566	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036052	0.92[EUR][1000 genomes]
rs2132168	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2132169	0.86[EUR][1000 genomes]
rs239189	0.90[EUR][1000 genomes]
rs239190	0.89[EUR][1000 genomes]
rs239196	0.99[ASN][1000 genomes]
rs239197	0.90[EUR][1000 genomes]
rs239198	1.00[ASN][1000 genomes]
rs239201	0.90[EUR][1000 genomes]
rs239203	0.90[EUR][1000 genomes]
rs239204	0.90[EUR][1000 genomes]
rs239206	0.91[EUR][1000 genomes]
rs239207	0.91[EUR][1000 genomes]
rs239208	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs239209	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239211	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs239215	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs239216	0.92[EUR][1000 genomes]
rs239217	0.92[EUR][1000 genomes]
rs239218	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs239219	0.90[EUR][1000 genomes]
rs239221	0.90[EUR][1000 genomes]
rs239222	0.90[EUR][1000 genomes]
rs239223	0.90[EUR][1000 genomes]
rs239226	0.90[EUR][1000 genomes]
rs239227	0.90[EUR][1000 genomes]
rs239229	0.90[EUR][1000 genomes]
rs239230	0.90[EUR][1000 genomes]
rs239231	0.90[EUR][1000 genomes]
rs239232	0.90[EUR][1000 genomes]
rs239234	0.97[EUR][1000 genomes]
rs239235	0.90[EUR][1000 genomes]
rs239236	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs239237	0.89[EUR][1000 genomes]
rs239238	0.89[EUR][1000 genomes]
rs239239	0.89[EUR][1000 genomes]
rs239242	0.89[EUR][1000 genomes]
rs239245	0.89[EUR][1000 genomes]
rs239246	0.89[EUR][1000 genomes]
rs239247	0.89[EUR][1000 genomes]
rs239248	0.88[EUR][1000 genomes]
rs239249	0.89[EUR][1000 genomes]
rs240110	0.86[EUR][1000 genomes]
rs240111	0.94[EUR][1000 genomes]
rs240112	0.85[EUR][1000 genomes]
rs240141	0.87[EUR][1000 genomes]
rs240143	0.89[EUR][1000 genomes]
rs240145	0.89[EUR][1000 genomes]
rs240146	0.89[EUR][1000 genomes]
rs240147	0.86[EUR][1000 genomes]
rs240148	0.87[EUR][1000 genomes]
rs240149	0.85[EUR][1000 genomes]
rs240151	0.94[EUR][1000 genomes]
rs240152	0.94[EUR][1000 genomes]
rs240153	0.86[EUR][1000 genomes]
rs240154	0.89[EUR][1000 genomes]
rs240156	0.87[EUR][1000 genomes]
rs240776	0.80[ASN][1000 genomes]
rs35168784	0.85[EUR][1000 genomes]
rs35967345	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs369125	0.89[EUR][1000 genomes]
rs41288423	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4461738	0.86[CEU][hapmap]
rs454747	0.83[EUR][1000 genomes]
rs4571568	0.84[EUR][1000 genomes]
rs4840147	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4840148	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4840150	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4840151	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4840153	0.84[EUR][1000 genomes]
rs58266877	0.92[EUR][1000 genomes]
rs62422070	0.83[EUR][1000 genomes]
rs6570922	0.86[EUR][1000 genomes]
rs6570930	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6570970	0.84[EUR][1000 genomes]
rs6903665	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6904959	0.98[EUR][1000 genomes]
rs6905221	0.92[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6907240	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6907444	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6909880	0.86[EUR][1000 genomes]
rs6910738	0.80[ASN][1000 genomes]
rs6916468	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6919283	0.84[EUR][1000 genomes]
rs6922219	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6925065	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6925823	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6925840	0.84[EUR][1000 genomes]
rs6927598	0.84[EUR][1000 genomes]
rs6928418	0.96[ASN][1000 genomes]
rs6938440	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs705586	0.82[EUR][1000 genomes]
rs723742	0.84[EUR][1000 genomes]
rs723743	0.84[EUR][1000 genomes]
rs7451736	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7742011	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7746947	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7747014	0.85[EUR][1000 genomes]
rs9322173	0.85[EUR][1000 genomes]
rs9322174	0.81[EUR][1000 genomes]
rs9322216	0.84[EUR][1000 genomes]
rs9373590	0.84[EUR][1000 genomes]
rs9377234	0.82[EUR][1000 genomes]
rs9377235	0.82[EUR][1000 genomes]
rs9386233	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9386250	0.80[EUR][1000 genomes]
rs9390693	0.84[EUR][1000 genomes]
rs9399685	0.80[EUR][1000 genomes]
rs9399688	0.83[EUR][1000 genomes]
rs9403997	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9404016	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9404045	0.84[EUR][1000 genomes]
rs9498252	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv886450	chr6:101018032-101168137	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv886451	chr6:101018032-101172328	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886452	chr6:101018032-101192051	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv886453	chr6:101018032-101203051	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv886455	chr6:101049108-101203051	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	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
9	nsv604270	chr6:101058886-101196080	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv463991	chr6:101072307-101196080	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv604272	chr6:101072307-101196080	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv463992	chr6:101072307-101197953	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	nsv604273	chr6:101072307-101197953	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv604274	chr6:101078718-101196080	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
15	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
16	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
17	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

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101111200-101168200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:101111600-101168000	Weak transcription	NHDF-Ad	bronchial
3	chr6:101111800-101168200	Weak transcription	Osteobl	bone
4	chr6:101118600-101168000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:101119400-101181200	Weak transcription	Left Ventricle	heart
6	chr6:101128800-101168000	Weak transcription	NHLF	lung
7	chr6:101142400-101189600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:101145000-101168000	Weak transcription	Hela-S3	cervix
9	chr6:101145400-101175600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:101145600-101168200	Weak transcription	Brain Substantia Nigra	brain
11	chr6:101145600-101169200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr6:101147600-101168000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:101147800-101190000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:101148200-101168000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:101148200-101172200	Weak transcription	HSMMtube	muscle
16	chr6:101148200-101175600	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:101148200-101189600	Weak transcription	Placenta	Placenta
18	chr6:101148600-101173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:101148600-101177800	Weak transcription	Fetal Lung	lung
20	chr6:101148600-101184400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:101149400-101174400	Weak transcription	Esophagus	oesophagus
22	chr6:101149600-101168200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:101149600-101190000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr6:101149800-101175000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:101150000-101168000	Weak transcription	K562	blood
26	chr6:101150000-101172400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:101150000-101174800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr6:101150200-101168000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:101150200-101190000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:101150200-101190000	Weak transcription	Ovary	ovary
31	chr6:101150200-101190600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:101150400-101175600	Weak transcription	NHEK	skin
33	chr6:101150600-101168200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:101150600-101170000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:101150600-101170000	Weak transcription	Fetal Intestine Large	intestine
36	chr6:101150600-101172000	Weak transcription	GM12878-XiMat	blood
37	chr6:101151000-101174800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr6:101151400-101185600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:101155000-101167800	Weak transcription	HUVEC	blood vessel
40	chr6:101156000-101190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:101157000-101168000	Weak transcription	Adipose Nuclei	Adipose
42	chr6:101157400-101168200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:101157400-101190000	Weak transcription	HepG2	liver
44	chr6:101159600-101172400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:101161000-101168000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr6:101161000-101171800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr6:101161400-101174800	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:101161600-101167800	Weak transcription	Liver	Liver
49	chr6:101161600-101185800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:101161800-101170400	Weak transcription	HSMM	muscle

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