Variant report

Variant	rs12144315
Chromosome Location	chr1:150272626-150272627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150272425..150274715-chr1:150283636..150285207,2	MCF-7	breast:
2	chr1:150271623..150273690-chr1:150284669..150287507,2	K562	blood:
3	chr1:150270358..150272850-chr1:150276338..150279284,2	K562	blood:
4	chr1:150271624..150273327-chr1:150292517..150294020,2	MCF-7	breast:
5	chr1:150272515..150274604-chr1:150295107..150297514,2	K562	blood:
6	chr1:150264435..150268272-chr1:150270315..150275864,5	K562	blood:
7	chr1:150272468..150277468-chr1:150279289..150286428,7	K562	blood:

Variant related genes	Relation type
ENSG00000187145	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11205360	0.96[EUR][1000 genomes]
rs11205361	0.97[EUR][1000 genomes]
rs11205362	0.95[EUR][1000 genomes]
rs11205367	0.83[EUR][1000 genomes]
rs11205374	0.85[EUR][1000 genomes]
rs11205377	0.87[EUR][1000 genomes]
rs11548267	0.89[EUR][1000 genomes]
rs11576289	0.89[EUR][1000 genomes]
rs11576293	0.89[EUR][1000 genomes]
rs11577751	0.87[EUR][1000 genomes]
rs11578585	0.89[EUR][1000 genomes]
rs11579087	0.87[EUR][1000 genomes]
rs11579341	0.89[EUR][1000 genomes]
rs11580234	0.99[EUR][1000 genomes]
rs11580307	0.87[EUR][1000 genomes]
rs11580764	0.87[EUR][1000 genomes]
rs11582835	0.87[EUR][1000 genomes]
rs11584070	0.95[EUR][1000 genomes]
rs11584761	0.95[EUR][1000 genomes]
rs11586880	0.81[EUR][1000 genomes]
rs11587606	0.95[EUR][1000 genomes]
rs11587682	0.95[EUR][1000 genomes]
rs11587837	0.95[EUR][1000 genomes]
rs11588221	0.83[EUR][1000 genomes]
rs12119320	0.85[EUR][1000 genomes]
rs12120683	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12120867	0.89[EUR][1000 genomes]
rs12123044	0.89[EUR][1000 genomes]
rs12126312	0.83[EUR][1000 genomes]
rs12128385	0.83[EUR][1000 genomes]
rs12134682	0.83[EUR][1000 genomes]
rs12138453	0.86[EUR][1000 genomes]
rs12138787	0.95[EUR][1000 genomes]
rs12139286	0.95[EUR][1000 genomes]
rs12142178	0.95[EUR][1000 genomes]
rs12142331	0.93[EUR][1000 genomes]
rs12142874	0.86[EUR][1000 genomes]
rs12144958	0.83[EUR][1000 genomes]
rs12145630	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16835780	0.95[EUR][1000 genomes]
rs2133128	0.89[EUR][1000 genomes]
rs28560019	0.95[EUR][1000 genomes]
rs34755378	0.89[EUR][1000 genomes]
rs41273537	0.87[EUR][1000 genomes]
rs41300865	0.95[EUR][1000 genomes]
rs4265470	0.83[EUR][1000 genomes]
rs55973252	0.95[EUR][1000 genomes]
rs56133109	0.95[EUR][1000 genomes]
rs72694990	0.87[EUR][1000 genomes]
rs72694993	0.89[EUR][1000 genomes]
rs72696807	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72696808	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72696824	0.95[EUR][1000 genomes]
rs72696828	0.95[EUR][1000 genomes]
rs72696841	0.91[EUR][1000 genomes]
rs72696848	0.87[EUR][1000 genomes]
rs72696852	0.83[EUR][1000 genomes]
rs72696859	0.83[EUR][1000 genomes]
rs72696873	0.83[EUR][1000 genomes]
rs72696901	0.86[EUR][1000 genomes]
rs72698822	0.87[EUR][1000 genomes]
rs72698842	0.86[EUR][1000 genomes]
rs942453	0.94[EUR][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	chr1:150267000-150272800	Weak transcription	Primary T cells from cord blood	blood
2	chr1:150267000-150273800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:150267000-150274000	Weak transcription	Aorta	Aorta
4	chr1:150267000-150274200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:150267000-150274400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:150267000-150274400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:150267000-150274600	Weak transcription	Gastric	stomach
8	chr1:150267000-150274600	Weak transcription	Ovary	ovary
9	chr1:150267000-150280000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:150267000-150280000	Weak transcription	Small Intestine	intestine
11	chr1:150267000-150284000	Weak transcription	Brain Substantia Nigra	brain
12	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
13	chr1:150267200-150273000	Weak transcription	NH-A	brain
14	chr1:150267200-150273400	Weak transcription	Primary B cells from cord blood	blood
15	chr1:150267200-150273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:150267200-150273800	Weak transcription	Right Ventricle	heart
17	chr1:150267200-150274400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:150267200-150274400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:150267200-150274400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr1:150267200-150274400	Weak transcription	Fetal Kidney	kidney
21	chr1:150267200-150275600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:150267200-150276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:150267200-150280000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:150267200-150280000	Weak transcription	Esophagus	oesophagus
25	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:150267400-150273600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:150267600-150273400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:150267600-150274400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:150267600-150274400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:150267600-150274400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:150267600-150275200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:150267600-150275400	Strong transcription	Fetal Stomach	stomach
33	chr1:150267600-150276400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr1:150267600-150277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:150267800-150273000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:150267800-150273200	Strong transcription	Brain Hippocampus Middle	brain
37	chr1:150267800-150274400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:150267800-150276400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:150267800-150277000	Strong transcription	Adipose Nuclei	Adipose
40	chr1:150267800-150280800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:150267800-150281400	Strong transcription	Liver	Liver
42	chr1:150267800-150282000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr1:150268000-150274000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:150268000-150274600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr1:150268000-150275000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr1:150268000-150281000	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:150268000-150281400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:150268000-150282600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:150268000-150293200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:150268200-150274400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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