Variant report

Variant	rs73011913
Chromosome Location	chr1:149959566-149959567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149949648..149953559-chr1:149958432..149961750,3	MCF-7	breast:
2	chr1:149856207..149859790-chr1:149958537..149961380,3	MCF-7	breast:
3	chr1:149953573..149956362-chr1:149958708..149961948,3	K562	blood:
4	chr1:149959534..149961755-chr1:149979589..149981330,2	MCF-7	breast:
5	chr1:149954671..149956899-chr1:149958944..149962054,3	MCF-7	breast:
6	chr1:149945190..149951055-chr1:149955630..149959988,5	K562	blood:
7	chr1:149953342..149955769-chr1:149958708..149960353,2	K562	blood:
8	chr1:149941757..149944042-chr1:149958369..149960420,2	MCF-7	breast:
9	chr1:149958106..149960695-chr1:149966132..149969031,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184270	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000163113	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]
rs73011906	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]
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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149947600-149963600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:149948200-149967600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:149948200-149967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:149948200-149973000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:149948200-149977400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:149948200-149981000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr1:149948400-149964600	Weak transcription	Lung	lung
8	chr1:149948400-149967800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:149948400-149969400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:149948400-149971600	Weak transcription	Fetal Brain Male	brain
11	chr1:149948400-149981400	Weak transcription	Esophagus	oesophagus
12	chr1:149949400-149975400	Weak transcription	Placenta	Placenta
13	chr1:149949600-149967000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:149949600-149967000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:149949600-149967600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:149949600-149967600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:149949600-149968200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:149949600-149968400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:149949600-149968600	Weak transcription	K562	blood
20	chr1:149949600-149974400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:149951200-149964800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:149951800-149965800	Weak transcription	HUVEC	blood vessel
23	chr1:149952000-149968000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:149952200-149960200	Weak transcription	Small Intestine	intestine
25	chr1:149952200-149980800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:149953000-149969400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:149953000-149978800	Weak transcription	Pancreas	Pancrea
28	chr1:149953600-149968000	Weak transcription	A549	lung
29	chr1:149953800-149960400	Weak transcription	Liver	Liver
30	chr1:149956000-149962400	Enhancers	Brain Hippocampus Middle	brain
31	chr1:149956400-149967400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:149956600-149968000	Weak transcription	Fetal Intestine Large	intestine
33	chr1:149956600-149968800	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:149957600-149960000	Enhancers	Adipose Nuclei	Adipose
35	chr1:149957600-149961000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:149957600-149961200	Enhancers	Brain Substantia Nigra	brain
37	chr1:149957600-149964000	Weak transcription	Fetal Intestine Small	intestine
38	chr1:149957800-149959800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:149957800-149960000	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:149957800-149961000	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:149957800-149978600	Weak transcription	Spleen	Spleen
42	chr1:149958000-149960000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:149958000-149960600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:149958000-149961000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:149958000-149961200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr1:149958000-149961800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:149958000-149961800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:149958000-149965800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:149958200-149959600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:149958200-149959600	Enhancers	Placenta Amnion	Placenta Amnion

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