Variant report

Variant	rs73244785
Chromosome Location	chr6:163917758-163917759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163916682..163919334-chr6:163944719..163947401,2	MCF-7	breast:
2	chr6:163836267..163838543-chr6:163917263..163919206,2	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs56003099	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56276977	1.00[AFR][1000 genomes]
rs56375308	0.90[AFR][1000 genomes]
rs57075041	0.93[AFR][1000 genomes]
rs57318320	1.00[AFR][1000 genomes]
rs57767588	0.93[AFR][1000 genomes]
rs57832687	0.90[AFR][1000 genomes]
rs57845473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57904637	0.93[AFR][1000 genomes]
rs57945325	1.00[AFR][1000 genomes]
rs57992259	1.00[AFR][1000 genomes]
rs58111601	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58159136	1.00[AFR][1000 genomes]
rs58495293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59991282	0.93[AFR][1000 genomes]
rs60058520	0.87[AFR][1000 genomes]
rs60353098	0.84[AFR][1000 genomes]
rs60606954	1.00[AFR][1000 genomes]
rs60632275	0.90[AFR][1000 genomes]
rs60873852	0.87[AFR][1000 genomes]
rs61358847	1.00[AFR][1000 genomes]
rs61586762	0.93[AFR][1000 genomes]
rs6934718	1.00[AFR][1000 genomes]
rs73244762	0.93[AFR][1000 genomes]
rs73244765	0.93[AFR][1000 genomes]
rs73244775	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244776	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244777	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244778	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244781	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244801	1.00[AFR][1000 genomes]
rs73246605	1.00[AFR][1000 genomes]
rs73246607	0.93[AFR][1000 genomes]
rs73246609	1.00[AFR][1000 genomes]
rs73246610	1.00[AFR][1000 genomes]
rs73246620	1.00[AFR][1000 genomes]
rs73246625	1.00[AFR][1000 genomes]
rs73246641	0.93[AFR][1000 genomes]
rs73246647	0.93[AFR][1000 genomes]
rs73246654	0.93[AFR][1000 genomes]
rs73246671	1.00[AFR][1000 genomes]
rs73246675	0.93[AFR][1000 genomes]
rs73246685	0.93[AFR][1000 genomes]
rs73246688	1.00[AFR][1000 genomes]
rs73246696	1.00[AFR][1000 genomes]
rs73246702	0.87[AFR][1000 genomes]
rs73248703	0.97[AFR][1000 genomes]
rs73784423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784425	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784461	0.93[AFR][1000 genomes]
rs73784465	1.00[AFR][1000 genomes]
rs73784482	1.00[AFR][1000 genomes]
rs73784483	1.00[AFR][1000 genomes]
rs73787626	0.86[AFR][1000 genomes]
rs73787637	0.83[AFR][1000 genomes]
rs7771996	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163898400-163926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:163902600-163921800	Weak transcription	HepG2	liver
3	chr6:163903000-163924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:163903600-163926000	Weak transcription	Lung	lung
5	chr6:163905000-163918400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:163905800-163921800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:163906800-163919400	Weak transcription	Ovary	ovary
8	chr6:163907200-163925000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:163907200-163926000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:163909200-163921000	Weak transcription	Primary B cells from cord blood	blood
11	chr6:163909400-163923800	Weak transcription	Aorta	Aorta
12	chr6:163909600-163922600	Weak transcription	Fetal Brain Female	brain
13	chr6:163911200-163926000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:163911200-163926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:163911600-163928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:163911800-163934800	Weak transcription	Pancreas	Pancrea
17	chr6:163912000-163918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:163912200-163920800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:163912200-163921600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:163912200-163921600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr6:163912400-163921000	Weak transcription	Fetal Lung	lung
22	chr6:163912400-163921000	Weak transcription	NHLF	lung
23	chr6:163912400-163926200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:163912600-163925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:163913000-163928000	Weak transcription	HUVEC	blood vessel
26	chr6:163913800-163922800	Enhancers	Brain Angular Gyrus	brain
27	chr6:163914000-163918000	Enhancers	Brain Anterior Caudate	brain
28	chr6:163914400-163917800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:163914400-163918000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:163914400-163918200	Enhancers	Brain Cingulate Gyrus	brain
31	chr6:163915600-163919600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:163915600-163925400	Weak transcription	A549	lung
33	chr6:163915600-163926000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:163915600-163928000	Weak transcription	Osteobl	bone
35	chr6:163915800-163922600	Weak transcription	K562	blood
36	chr6:163915800-163927400	Weak transcription	HSMM	muscle
37	chr6:163916000-163929200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr6:163916200-163928200	Enhancers	Brain Substantia Nigra	brain
39	chr6:163916800-163917800	Enhancers	Rectal Smooth Muscle	rectum
40	chr6:163917000-163918000	Enhancers	Colon Smooth Muscle	Colon
41	chr6:163917000-163918000	Enhancers	Right Ventricle	heart
42	chr6:163917000-163928000	Weak transcription	Liver	Liver
43	chr6:163917200-163917800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:163917200-163917800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr6:163917200-163917800	Enhancers	Stomach Smooth Muscle	stomach
46	chr6:163917200-163918000	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr6:163917200-163918000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:163917200-163918200	Enhancers	Adipose Nuclei	Adipose
49	chr6:163917200-163919200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:163917400-163917800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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