Variant report

Variant	rs72696844
Chromosome Location	chr1:150344961-150344962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150342783..150345728-chr1:150352840..150355272,2	K562	blood:
2	chr1:150344693..150350764-chr1:150356084..150361525,10	MCF-7	breast:
3	chr1:150343057..150346056-chr1:150346785..150349871,3	MCF-7	breast:
4	chr1:150343989..150346170-chr1:150348649..150351860,4	K562	blood:
5	chr1:150342783..150345728-chr1:150352840..150356316,3	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1011546	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1043293	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1050818	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10788874	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888581	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888582	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205366	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205368	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205369	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205376	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205378	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205380	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11205381	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205383	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11580810	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11581051	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582094	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11582170	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11584488	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11584613	0.92[EUR][1000 genomes]
rs11588184	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588185	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11588874	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589632	0.82[AFR][1000 genomes]
rs11589873	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808242	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811159	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811950	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116970	0.83[EUR][1000 genomes]
rs12120775	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12120779	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121133	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121966	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123103	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126130	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126240	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126327	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126357	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126958	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128653	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129491	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130082	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130583	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131083	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12131672	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12132890	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12134306	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136332	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136802	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137967	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139488	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140697	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141218	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142196	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144091	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145082	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145566	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145967	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12726415	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729719	0.82[EUR][1000 genomes]
rs12729727	0.83[EUR][1000 genomes]
rs12731738	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12737757	0.83[EUR][1000 genomes]
rs12738490	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739019	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741448	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12745446	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12757823	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1343965	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16836143	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16836230	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16836940	0.85[EUR][1000 genomes]
rs1962480	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173376	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34029237	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34247601	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34353365	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34391279	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34456572	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34906632	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34933405	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35322831	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35591746	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699789	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35839589	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35989785	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36020363	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36023386	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36029278	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36038795	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36122812	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850841	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3862206	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41264059	0.83[EUR][1000 genomes]
rs41264139	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970946	0.82[EUR][1000 genomes]
rs55816515	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56321241	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66513313	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670974	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686690	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686809	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694168	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694394	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6703798	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67566205	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67654647	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67733549	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67903303	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68097764	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622700	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72696853	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698829	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698868	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72698870	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74127616	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7417465	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519691	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522820	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542068	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542510	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552883	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651184	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][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	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150338400-150405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:150338800-150346800	Weak transcription	Lung	lung
3	chr1:150339400-150346400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:150339400-150346400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:150339400-150346600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:150339400-150348800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr1:150339400-150372800	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:150339400-150390600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:150339600-150345200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:150339600-150345200	Weak transcription	Ovary	ovary
11	chr1:150339600-150345800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:150339600-150346000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:150339600-150346400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:150339600-150346400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:150339600-150346400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:150339600-150346400	Weak transcription	Right Atrium	heart
17	chr1:150339600-150346600	Weak transcription	Small Intestine	intestine
18	chr1:150339600-150349400	Weak transcription	Fetal Stomach	stomach
19	chr1:150339600-150356400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:150339600-150359800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:150339600-150372800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:150339800-150346200	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:150339800-150346200	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:150339800-150346400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:150339800-150346400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:150339800-150346400	Weak transcription	Brain Substantia Nigra	brain
27	chr1:150339800-150346400	Weak transcription	Right Ventricle	heart
28	chr1:150339800-150346400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:150339800-150346600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:150339800-150347000	Weak transcription	Fetal Lung	lung
31	chr1:150339800-150347400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:150339800-150368600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:150339800-150390000	Weak transcription	Thymus	Thymus
34	chr1:150340000-150345000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:150340000-150346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:150340000-150346200	Weak transcription	Adipose Nuclei	Adipose
37	chr1:150340000-150346600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:150340000-150346600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:150340000-150346800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:150340000-150346800	Weak transcription	Brain Germinal Matrix	brain
41	chr1:150340000-150346800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:150340000-150362000	Weak transcription	Primary B cells from cord blood	blood
43	chr1:150340000-150416800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:150340200-150347200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr1:150340200-150347600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:150340200-150348600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr1:150340600-150345200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:150340600-150346200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:150340600-150346400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:150340600-150346400	Weak transcription	Fetal Brain Male	brain

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