Variant report

Variant	rs73246609
Chromosome Location	chr6:163933240-163933241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163932152..163934277-chr6:163941799..163943537,2	K562	blood:
2	chr6:163835622..163837984-chr6:163932902..163934643,2	K562	blood:
3	chr6:163926892..163930001-chr6:163930926..163934200,4	K562	blood:
4	chr6:163931741..163933882-chr6:163991613..163993887,2	K562	blood:
5	chr6:163933236..163935376-chr6:163942344..163945131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs16895106	0.83[AMR][1000 genomes]
rs16895109	0.83[AMR][1000 genomes]
rs16895112	0.83[AMR][1000 genomes]
rs56003099	0.93[AFR][1000 genomes]
rs56276977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56375308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57075041	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57318320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57767588	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57832687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57845473	1.00[AFR][1000 genomes]
rs57904637	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57945325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57992259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58111601	0.93[AFR][1000 genomes]
rs58159136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58495293	1.00[AFR][1000 genomes]
rs59991282	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60058520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60353098	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60606954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60632275	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60873852	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61358847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61586762	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934729	0.83[AMR][1000 genomes]
rs6936664	0.83[AMR][1000 genomes]
rs73244762	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244765	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244775	0.93[AFR][1000 genomes]
rs73244776	0.93[AFR][1000 genomes]
rs73244777	0.93[AFR][1000 genomes]
rs73244778	0.93[AFR][1000 genomes]
rs73244781	0.93[AFR][1000 genomes]
rs73244785	1.00[AFR][1000 genomes]
rs73244786	1.00[AFR][1000 genomes]
rs73244787	1.00[AFR][1000 genomes]
rs73244801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246607	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246641	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246647	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246651	0.83[AMR][1000 genomes]
rs73246654	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246656	0.83[AMR][1000 genomes]
rs73246662	0.83[AMR][1000 genomes]
rs73246665	0.83[AMR][1000 genomes]
rs73246671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246675	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246688	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246702	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784423	0.93[AFR][1000 genomes]
rs73784425	0.93[AFR][1000 genomes]
rs73784461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73787626	0.86[AFR][1000 genomes]
rs73787637	0.83[AFR][1000 genomes]
rs7771996	0.81[AFR][1000 genomes]
rs9688570	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv524205	chr6:163919517-163938331	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763608	chr6:163920117-163943429	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163911800-163934800	Weak transcription	Pancreas	Pancrea
2	chr6:163920200-163934800	Weak transcription	Ovary	ovary
3	chr6:163926600-163934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:163926600-163934800	Weak transcription	Lung	lung
5	chr6:163926600-163934800	Weak transcription	Psoas Muscle	Psoas
6	chr6:163926600-163934800	Weak transcription	Right Atrium	heart
7	chr6:163926600-163946200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:163926600-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
10	chr6:163926800-163934800	Weak transcription	Right Ventricle	heart
11	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:163928200-163951600	Weak transcription	Spleen	Spleen
13	chr6:163928600-163934000	Weak transcription	Fetal Heart	heart
14	chr6:163928600-163938400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:163928600-163941000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:163928800-163934800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:163928800-163942800	Weak transcription	HSMM	muscle
18	chr6:163928800-163944000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:163928800-163946600	Weak transcription	HUVEC	blood vessel
20	chr6:163929000-163938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:163929000-163947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:163929200-163946600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:163929200-163946800	Weak transcription	HMEC	breast
24	chr6:163929400-163943800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:163929400-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:163929600-163934200	Weak transcription	HepG2	liver
27	chr6:163929600-163934800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:163929600-163940000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:163929600-163947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:163929600-163950800	Weak transcription	Fetal Lung	lung
31	chr6:163929600-163951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
33	chr6:163930200-163933600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:163930200-163933600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:163930200-163934800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr6:163930400-163934600	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:163930400-163940400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:163930400-163941000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:163930600-163938000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:163930600-163943600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:163930600-163950200	Weak transcription	Fetal Muscle Leg	muscle
42	chr6:163931000-163934200	Weak transcription	Brain Substantia Nigra	brain
43	chr6:163931000-163934800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:163931600-163934800	Weak transcription	Left Ventricle	heart
45	chr6:163931800-163934200	Weak transcription	A549	lung
46	chr6:163933200-163933400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:163933200-163933400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:163933200-163933800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:163933200-163934000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:163933200-163934000	Enhancers	K562	blood

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