Variant report

Variant	rs71622690
Chromosome Location	chr1:150281343-150281344
allele	C/G/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150281317..150284085-chr1:150333771..150336278,2	K562	blood:
2	chr1:150207006..150210837-chr1:150278818..150282329,4	K562	blood:
3	chr1:150280657..150283062-chr1:150292423..150294559,2	MCF-7	breast:
4	chr1:150278389..150282847-chr1:150283381..150286594,4	K562	blood:
5	chr1:150272468..150277468-chr1:150279289..150286428,7	K562	blood:
6	chr1:150207006..150208585-chr1:150279778..150282338,2	K562	blood:
7	chr1:150280886..150284746-chr1:150291835..150295516,6	MCF-7	breast:
8	chr1:150274556..150276296-chr1:150279435..150281772,2	K562	blood:
9	chr1:150273449..150279043-chr1:150279801..150282340,7	MCF-7	breast:
10	chr1:150266649..150270690-chr1:150280933..150283523,3	K562	blood:
11	chr1:150277809..150280750-chr1:150280887..150284512,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000117360	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000222222	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs12116970	0.85[ASN][1000 genomes]
rs12718416	0.85[ASN][1000 genomes]
rs12729719	0.85[ASN][1000 genomes]
rs13057	0.89[ASN][1000 genomes]
rs16830437	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16835699	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16835708	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16835782	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16835791	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16835911	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16836130	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16836139	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16836442	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16836576	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16836594	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16836601	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16836786	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16836940	0.83[ASN][1000 genomes]
rs16836943	0.87[ASN][1000 genomes]
rs2015966	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2275245	0.89[ASN][1000 genomes]
rs2275778	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2275779	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3737319	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3738322	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3806389	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3850843	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4926420	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4926430	0.91[ASN][1000 genomes]
rs4970925	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4970927	0.85[ASN][1000 genomes]
rs4970946	0.85[ASN][1000 genomes]
rs4970947	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs522068	0.98[ASN][1000 genomes]
rs56882505	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56909494	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57163995	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57272513	0.87[ASN][1000 genomes]
rs57361164	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs57971032	0.87[ASN][1000 genomes]
rs58373639	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58419446	0.81[ASN][1000 genomes]
rs58516261	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59367061	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59378360	0.91[ASN][1000 genomes]
rs59639798	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs59662772	0.87[ASN][1000 genomes]
rs60456922	0.81[ASN][1000 genomes]
rs60459288	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60531845	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60730811	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60758881	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6679726	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6680391	0.87[ASN][1000 genomes]
rs6700009	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6700607	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73011380	0.87[ASN][1000 genomes]
rs73011384	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73011400	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73013119	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73013129	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73015063	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73015078	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73015081	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73015095	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73015096	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73017006	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73017073	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73017086	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73017092	0.91[ASN][1000 genomes]
rs73017102	0.87[ASN][1000 genomes]
rs73019017	0.87[ASN][1000 genomes]
rs73019018	0.87[ASN][1000 genomes]
rs73019020	0.87[ASN][1000 genomes]
rs73019021	0.87[ASN][1000 genomes]
rs73019027	0.87[ASN][1000 genomes]
rs73019028	0.87[ASN][1000 genomes]
rs7543314	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs871527	0.89[ASN][1000 genomes]
rs953127	0.89[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150267000-150284000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
3	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:150267800-150281400	Strong transcription	Liver	Liver
5	chr1:150267800-150282000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr1:150268000-150281400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:150268000-150282600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:150268000-150293200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:150268200-150282600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:150268200-150282600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:150268200-150282800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:150268200-150282800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:150268200-150282800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:150269000-150281400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:150269000-150282800	Strong transcription	Fetal Thymus	thymus
16	chr1:150269400-150282800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:150271600-150284000	Weak transcription	Colonic Mucosa	Colon
18	chr1:150272600-150282800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:150274000-150282800	Strong transcription	Fetal Brain Female	brain
20	chr1:150274800-150282800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:150274800-150284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:150275000-150286400	Weak transcription	HepG2	liver
23	chr1:150275200-150281600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:150275200-150282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:150275400-150282600	Weak transcription	Right Ventricle	heart
26	chr1:150275400-150283400	Weak transcription	Aorta	Aorta
27	chr1:150275600-150282200	Weak transcription	Fetal Heart	heart
28	chr1:150275600-150282800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:150275600-150286400	Weak transcription	Psoas Muscle	Psoas
30	chr1:150276000-150293200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:150276000-150293200	Weak transcription	Dnd41	blood
32	chr1:150276200-150282800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:150276400-150281600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:150276400-150282600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:150276400-150284200	Weak transcription	NH-A	brain
36	chr1:150276400-150284800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:150276400-150293200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:150276400-150293200	Weak transcription	Fetal Kidney	kidney
39	chr1:150276600-150282800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:150276600-150282800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:150277200-150282000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:150277400-150281400	Strong transcription	K562	blood
43	chr1:150277400-150281600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:150277400-150282600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:150277800-150281400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:150277800-150281400	Strong transcription	Brain Germinal Matrix	brain
47	chr1:150277800-150282800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr1:150278000-150283600	Weak transcription	Fetal Lung	lung
49	chr1:150278200-150283600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:150278800-150284200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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