Variant report

Variant	rs73011906
Chromosome Location	chr1:149952782-149952783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149951641..149954586-chr1:149979434..149983190,4	MCF-7	breast:
2	chr1:149947381..149949591-chr1:149950406..149953148,2	K562	blood:
3	chr1:149949648..149953559-chr1:149958432..149961750,3	MCF-7	breast:
4	chr1:149906864..149910391-chr1:149951416..149953248,3	MCF-7	breast:
5	chr1:149857298..149860210-chr1:149950871..149953438,2	MCF-7	breast:
6	chr1:149939082..149940718-chr1:149951900..149953765,2	K562	blood:
7	chr1:149865636..149867421-chr1:149950508..149953456,2	K562	blood:

Variant related genes	Relation type
ENSG00000184270	Chromatin interaction
ENSG00000014914	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000178096	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1556934	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs15916	0.83[AMR][1000 genomes]
rs16832989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16832993	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833048	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836857	1.00[AMR][1000 genomes]
rs16837054	1.00[AMR][1000 genomes]
rs16837367	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16837593	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838449	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16838646	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841141	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841623	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16841697	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56929499	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57020352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57182882	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57513077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58100431	1.00[AMR][1000 genomes]
rs58137104	0.83[AMR][1000 genomes]
rs58688107	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58777569	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59462540	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59709800	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59934949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60631776	1.00[AMR][1000 genomes]
rs6664973	1.00[AMR][1000 genomes]
rs6680574	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694482	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73004328	1.00[AMR][1000 genomes]
rs73004398	1.00[AMR][1000 genomes]
rs73004400	1.00[AMR][1000 genomes]
rs73006303	1.00[AMR][1000 genomes]
rs73006306	1.00[AMR][1000 genomes]
rs73006313	1.00[AMR][1000 genomes]
rs73006316	1.00[AMR][1000 genomes]
rs73006318	1.00[AMR][1000 genomes]
rs73006327	1.00[AMR][1000 genomes]
rs73006333	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008163	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008167	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008171	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008191	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008199	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008201	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010104	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010113	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010183	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010186	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73010189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73011930	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73016112	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7523560	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7543861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149930800-149959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:149934200-149958000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:149938000-149953000	Weak transcription	Thymus	Thymus
4	chr1:149939600-149953400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:149939600-149958000	Weak transcription	Aorta	Aorta
6	chr1:149941200-149957400	Weak transcription	Spleen	Spleen
7	chr1:149944800-149957800	Weak transcription	NHDF-Ad	bronchial
8	chr1:149946400-149957200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:149946400-149959000	Weak transcription	Gastric	stomach
10	chr1:149947600-149963600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:149947800-149958200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:149947800-149959200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:149948200-149957400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:149948200-149958400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:149948200-149967600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:149948200-149967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:149948200-149973000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:149948200-149977400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:149948200-149981000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:149948400-149958600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:149948400-149959000	Weak transcription	Ovary	ovary
22	chr1:149948400-149964600	Weak transcription	Lung	lung
23	chr1:149948400-149967800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:149948400-149969400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:149948400-149971600	Weak transcription	Fetal Brain Male	brain
26	chr1:149948400-149981400	Weak transcription	Esophagus	oesophagus
27	chr1:149949200-149956200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:149949400-149953800	Enhancers	Liver	Liver
29	chr1:149949400-149975400	Weak transcription	Placenta	Placenta
30	chr1:149949600-149953600	Enhancers	HepG2	liver
31	chr1:149949600-149956000	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:149949600-149957200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:149949600-149958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:149949600-149958400	Weak transcription	Fetal Lung	lung
35	chr1:149949600-149959200	Weak transcription	Left Ventricle	heart
36	chr1:149949600-149967000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:149949600-149967000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:149949600-149967600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:149949600-149967600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:149949600-149968200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:149949600-149968400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:149949600-149968600	Weak transcription	K562	blood
43	chr1:149949600-149974400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:149950600-149953400	Enhancers	Brain Anterior Caudate	brain
45	chr1:149950600-149953600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:149950600-149953600	Enhancers	Fetal Intestine Large	intestine
47	chr1:149950800-149953000	Enhancers	Duodenum Mucosa	Duodenum
48	chr1:149950800-149953200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:149950800-149953600	Enhancers	Brain Hippocampus Middle	brain
50	chr1:149950800-149957600	Weak transcription	HSMMtube	muscle

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