Variant report

Variant	rs522068
Chromosome Location	chr1:150285707-150285708
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150265469..150268038-chr1:150285308..150289353,3	MCF-7	breast:
2	chr1:150271623..150273690-chr1:150284669..150287507,2	K562	blood:
3	chr1:150274604..150277468-chr1:150284678..150287144,3	K562	blood:
4	chr1:150206856..150209999-chr1:150284764..150287620,4	MCF-7	breast:
5	chr1:150272468..150277468-chr1:150279289..150286428,7	K562	blood:
6	chr1:150278389..150282847-chr1:150283381..150286594,4	K562	blood:
7	chr1:150281347..150282861-chr1:150283777..150286157,2	K562	blood:
8	chr1:150265118..150267813-chr1:150284594..150286641,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222222	Chromatin interaction
ENSG00000187145	Chromatin interaction
ENSG00000143401	Chromatin interaction

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

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

rs_ID	r²[population]
rs12116970	0.88[ASN][1000 genomes]
rs12129037	0.81[ASN][1000 genomes]
rs12718416	0.83[ASN][1000 genomes]
rs12729719	0.88[ASN][1000 genomes]
rs13057	0.87[ASN][1000 genomes]
rs16830437	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16835699	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16835708	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16835782	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16835791	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16835911	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16836130	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16836139	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs16836442	0.98[ASN][1000 genomes]
rs16836576	0.93[ASN][1000 genomes]
rs16836594	0.93[ASN][1000 genomes]
rs16836601	0.93[ASN][1000 genomes]
rs16836786	0.93[ASN][1000 genomes]
rs16836940	0.85[ASN][1000 genomes]
rs16836943	0.85[ASN][1000 genomes]
rs2015966	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2275245	0.87[ASN][1000 genomes]
rs2275778	0.83[ASN][1000 genomes]
rs2275779	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3737319	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3738322	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3806389	0.87[ASN][1000 genomes]
rs3850843	0.93[ASN][1000 genomes]
rs4926420	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4926430	0.89[ASN][1000 genomes]
rs4970925	0.87[ASN][1000 genomes]
rs4970927	0.83[ASN][1000 genomes]
rs4970946	0.88[ASN][1000 genomes]
rs4970947	0.87[ASN][1000 genomes]
rs56882505	0.93[ASN][1000 genomes]
rs56909494	0.93[ASN][1000 genomes]
rs57163995	0.98[ASN][1000 genomes]
rs57272513	0.85[ASN][1000 genomes]
rs57361164	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs57971032	0.85[ASN][1000 genomes]
rs58373639	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs58516261	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs59367061	0.93[ASN][1000 genomes]
rs59378360	0.89[ASN][1000 genomes]
rs59639798	0.93[ASN][1000 genomes]
rs59662772	0.85[ASN][1000 genomes]
rs60459288	0.93[ASN][1000 genomes]
rs60531845	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs60730811	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs60758881	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6679726	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6680391	0.85[ASN][1000 genomes]
rs6700009	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6700607	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs71622690	0.98[ASN][1000 genomes]
rs73011380	0.85[ASN][1000 genomes]
rs73011384	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73011400	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73013119	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73013129	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73015063	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73015078	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73015081	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73015095	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73015096	0.98[ASN][1000 genomes]
rs73017006	0.98[ASN][1000 genomes]
rs73017073	0.93[ASN][1000 genomes]
rs73017086	0.93[ASN][1000 genomes]
rs73017092	0.89[ASN][1000 genomes]
rs73017102	0.85[ASN][1000 genomes]
rs73019017	0.85[ASN][1000 genomes]
rs73019018	0.85[ASN][1000 genomes]
rs73019020	0.85[ASN][1000 genomes]
rs73019021	0.85[ASN][1000 genomes]
rs73019027	0.85[ASN][1000 genomes]
rs73019028	0.85[ASN][1000 genomes]
rs7543314	0.87[ASN][1000 genomes]
rs871527	0.87[ASN][1000 genomes]
rs953127	0.87[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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
2	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:150268000-150293200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:150275000-150286400	Weak transcription	HepG2	liver
5	chr1:150275600-150286400	Weak transcription	Psoas Muscle	Psoas
6	chr1:150276000-150293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:150276000-150293200	Weak transcription	Dnd41	blood
8	chr1:150276400-150293200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:150276400-150293200	Weak transcription	Fetal Kidney	kidney
10	chr1:150278800-150293400	Weak transcription	NHDF-Ad	bronchial
11	chr1:150280600-150293200	Weak transcription	GM12878-XiMat	blood
12	chr1:150280800-150285800	Weak transcription	Thymus	Thymus
13	chr1:150280800-150289200	Weak transcription	Gastric	stomach
14	chr1:150280800-150293000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:150280800-150293200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:150280800-150293200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:150280800-150293200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:150280800-150293200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:150280800-150293200	Weak transcription	HUVEC	blood vessel
20	chr1:150280800-150293400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:150281000-150286400	Weak transcription	Hela-S3	cervix
22	chr1:150281000-150290600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:150281000-150293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:150281000-150293200	Weak transcription	Primary B cells from cord blood	blood
25	chr1:150281000-150293200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:150281000-150293200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:150281000-150293200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:150281000-150293200	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:150281000-150293200	Weak transcription	Spleen	Spleen
30	chr1:150281000-150293200	Weak transcription	HMEC	breast
31	chr1:150281200-150286600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr1:150281400-150285800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:150281400-150286200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:150281400-150286400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:150281400-150288200	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:150281400-150292400	Weak transcription	K562	blood
37	chr1:150281400-150293200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:150281400-150293200	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:150281400-150293200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:150281400-150293200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:150281400-150293200	Weak transcription	Liver	Liver
42	chr1:150281400-150293200	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:150281400-150293200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:150281400-150293200	Weak transcription	Left Ventricle	heart
45	chr1:150281400-150293200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:150281400-150293200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr1:150281400-150293200	Weak transcription	Osteobl	bone
48	chr1:150281400-150293400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:150281600-150286200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:150281600-150293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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