Variant report

Variant	rs6924226
Chromosome Location	chr6:70507500-70507501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:70505411-70507510	Raji	blood:	n/a	n/a
2	HCFC1	chr6:70505824-70507514	Hela-S3	cervix:	n/a	n/a
3	MXI1	chr6:70505317-70507543	SK-N-SH	brain:	n/a	chr6:70506902-70506917 chr6:70506904-70506919

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:70499217..70503850-chr6:70504773..70507699,6	K562	blood:

Variant related genes	Relation type
LMBRD1	TF binding region
ENSG00000168216	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11962504	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11964740	0.88[AFR][1000 genomes]
rs11965589	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11966214	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11966540	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11967076	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11967207	0.88[AFR][1000 genomes]
rs11967736	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11968161	0.96[ASN][1000 genomes]
rs11969169	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11969223	0.96[ASN][1000 genomes]
rs11969244	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11970647	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12111306	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1379454	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1457495	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1457496	0.96[ASN][1000 genomes]
rs1563611	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867900	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16868135	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1902651	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1902652	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1902653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2445961	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2445965	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2445967	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2445969	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2502556	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2502557	0.96[ASN][1000 genomes]
rs2502566	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2502567	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2502568	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3214020	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3778243	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3799097	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3928194	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4457128	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55823739	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56310174	0.96[ASN][1000 genomes]
rs57751010	0.96[ASN][1000 genomes]
rs57897217	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58614233	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59256218	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59573217	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59727335	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60078953	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60480225	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61572016	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6903952	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6905740	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6912049	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6920889	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6922658	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6924743	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6934740	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6936974	0.83[AFR][1000 genomes]
rs73469943	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73469973	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471802	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73481734	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73481772	0.91[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73485519	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73485522	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73485538	0.96[ASN][1000 genomes]
rs73485542	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73485549	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73486009	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73486032	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73745767	0.86[ASN][1000 genomes]
rs7740306	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7747688	0.96[ASN][1000 genomes]
rs7750707	0.96[ASN][1000 genomes]
rs7751578	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7758646	0.87[AFR][1000 genomes]
rs7763293	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7763931	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs980587	0.96[ASN][1000 genomes]
rs991973	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs991974	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886140	chr6:70354682-70728202	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv830682	chr6:70397851-70592883	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70505000-70507600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr6:70505000-70507800	Active TSS	Stomach Smooth Muscle	stomach
3	chr6:70505400-70507800	Active TSS	Colonic Mucosa	Colon
4	chr6:70506200-70507800	Active TSS	Fetal Brain Female	brain
5	chr6:70506800-70507800	Enhancers	Hela-S3	cervix
6	chr6:70507000-70507600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:70507000-70507600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:70507000-70507800	Enhancers	Primary B cells from peripheral blood	blood
9	chr6:70507000-70507800	Flanking Active TSS	Fetal Heart	heart
10	chr6:70507200-70507800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:70507200-70508000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:70507200-70508000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr6:70507200-70512800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:70507400-70507600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr6:70507400-70507600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:70507400-70507600	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr6:70507400-70507800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr6:70507400-70507800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr6:70507400-70507800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:70507400-70507800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:70507400-70507800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:70507400-70507800	Active TSS	Adipose Nuclei	Adipose
23	chr6:70507400-70507800	Enhancers	Brain Angular Gyrus	brain
24	chr6:70507400-70507800	Enhancers	Brain Cingulate Gyrus	brain
25	chr6:70507400-70507800	Enhancers	Brain Hippocampus Middle	brain
26	chr6:70507400-70507800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:70507400-70507800	Enhancers	Esophagus	oesophagus
28	chr6:70507400-70507800	Enhancers	Fetal Lung	lung
29	chr6:70507400-70507800	Enhancers	Fetal Muscle Trunk	muscle
30	chr6:70507400-70507800	Enhancers	Pancreas	Pancrea
31	chr6:70507400-70507800	Enhancers	Dnd41	blood
32	chr6:70507400-70508000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:70507400-70508000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:70507400-70508000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr6:70507400-70508000	Enhancers	Colon Smooth Muscle	Colon
36	chr6:70507400-70508000	Enhancers	Fetal Muscle Leg	muscle
37	chr6:70507400-70508000	Enhancers	Psoas Muscle	Psoas
38	chr6:70507400-70508000	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:70507400-70508000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:70507400-70508000	Enhancers	K562	blood
41	chr6:70507400-70508200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:70507400-70508200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr6:70507400-70510000	Weak transcription	Fetal Brain Male	brain
44	chr6:70507400-70511000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:70507400-70511000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:70507400-70511000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:70507400-70511000	Weak transcription	Fetal Thymus	thymus
48	chr6:70507400-70511400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:70507400-70511600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:70507400-70511600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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