Variant report

Variant	rs7543314
Chromosome Location	chr1:150271247-150271248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150269191..150272405-chr1:150292812..150295253,3	MCF-7	breast:
2	chr1:150270358..150272850-chr1:150276338..150279284,2	K562	blood:
3	chr1:150269403..150271858-chr1:150275044..150277838,2	K562	blood:
4	chr1:150232480..150234963-chr1:150270250..150271855,2	K562	blood:
5	chr1:150270315..150271818-chr1:150274900..150276885,2	MCF-7	breast:
6	chr1:150264435..150268272-chr1:150270315..150275864,5	K562	blood:

Variant related genes	Relation type
ENSG00000187145	Chromatin interaction
ENSG00000238526	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs13057	0.82[AMR][1000 genomes]
rs16830437	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16835699	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16835708	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16835782	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16835791	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16835911	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836130	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836139	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836442	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16836576	0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16836594	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16836601	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16836786	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16836943	0.82[AMR][1000 genomes]
rs2015966	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2275245	0.82[AMR][1000 genomes]
rs2275778	0.83[ASN][1000 genomes]
rs2275779	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3737319	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3738322	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3850843	0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4926420	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4926430	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs522068	0.87[ASN][1000 genomes]
rs56882505	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56909494	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57163995	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57272513	0.82[AMR][1000 genomes]
rs57361164	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs57971032	0.87[AMR][1000 genomes]
rs58373639	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs58516261	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59367061	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59378360	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59639798	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59662772	0.87[AMR][1000 genomes]
rs60459288	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60531845	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60730811	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60758881	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs61605510	0.82[AMR][1000 genomes]
rs6679726	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6680391	0.82[AMR][1000 genomes]
rs6700009	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6700607	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs71622690	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73011380	0.85[ASN][1000 genomes]
rs73011384	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73011400	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73013119	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs73013129	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015063	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015078	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015081	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015095	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73015096	0.95[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73017006	0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73017073	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73017086	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73017092	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73017102	0.87[AMR][1000 genomes]
rs73019017	0.82[AMR][1000 genomes]
rs73019018	0.82[AMR][1000 genomes]
rs73019020	0.82[AMR][1000 genomes]
rs73019021	0.82[AMR][1000 genomes]
rs73019027	0.82[AMR][1000 genomes]
rs73019028	0.82[AMR][1000 genomes]
rs871527	0.82[AMR][1000 genomes]
rs953127	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150267000-150272200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:150267000-150272400	Weak transcription	Left Ventricle	heart
3	chr1:150267000-150272800	Weak transcription	Primary T cells from cord blood	blood
4	chr1:150267000-150273800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:150267000-150274000	Weak transcription	Aorta	Aorta
6	chr1:150267000-150274200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:150267000-150274400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:150267000-150274400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:150267000-150274600	Weak transcription	Gastric	stomach
10	chr1:150267000-150274600	Weak transcription	Ovary	ovary
11	chr1:150267000-150280000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:150267000-150280000	Weak transcription	Small Intestine	intestine
13	chr1:150267000-150284000	Weak transcription	Brain Substantia Nigra	brain
14	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
15	chr1:150267200-150272200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:150267200-150273000	Weak transcription	NH-A	brain
17	chr1:150267200-150273400	Weak transcription	Primary B cells from cord blood	blood
18	chr1:150267200-150273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:150267200-150273800	Weak transcription	Right Ventricle	heart
20	chr1:150267200-150274400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:150267200-150274400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:150267200-150274400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:150267200-150274400	Weak transcription	Fetal Kidney	kidney
24	chr1:150267200-150275600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr1:150267200-150276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:150267200-150280000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:150267200-150280000	Weak transcription	Esophagus	oesophagus
28	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:150267400-150272400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:150267400-150273600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:150267600-150273400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr1:150267600-150274400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:150267600-150274400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:150267600-150274400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:150267600-150275200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:150267600-150275400	Strong transcription	Fetal Stomach	stomach
37	chr1:150267600-150276400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:150267600-150277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:150267800-150271600	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr1:150267800-150271600	Strong transcription	Placenta	Placenta
41	chr1:150267800-150273000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:150267800-150273200	Strong transcription	Brain Hippocampus Middle	brain
43	chr1:150267800-150274400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:150267800-150276400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:150267800-150277000	Strong transcription	Adipose Nuclei	Adipose
46	chr1:150267800-150280800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:150267800-150281400	Strong transcription	Liver	Liver
48	chr1:150267800-150282000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr1:150268000-150274000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:150268000-150274600	Strong transcription	Stomach Smooth Muscle	stomach

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