Variant report

Variant	rs72671871
Chromosome Location	chr4:106660324-106660325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs10050159	0.86[EUR][1000 genomes]
rs10050333	0.86[EUR][1000 genomes]
rs10516525	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10516526	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10516527	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10516528	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10516529	0.85[EUR][1000 genomes]
rs11097901	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11722225	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11723225	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11723240	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11723639	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11724839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11724884	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11726094	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11726124	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11726569	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11726674	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11727189	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11727348	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727500	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11727735	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11727745	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11728044	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11728716	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11728918	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11729003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11730354	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11730365	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11730660	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11731386	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11731417	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11731714	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11731938	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11732298	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11732629	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11732650	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11733093	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11733124	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11733150	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11733223	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11733225	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11733287	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11733654	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11734568	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11734571	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11735527	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11735851	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11736834	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11736859	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11737335	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11737741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12374256	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17036090	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17036105	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036120	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036123	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036125	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036129	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036156	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036177	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036189	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036225	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036230	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036258	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036292	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036308	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17036310	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17036327	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17036337	0.84[AMR][1000 genomes]
rs17036341	0.85[EUR][1000 genomes]
rs17331332	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28488297	0.86[EUR][1000 genomes]
rs34072732	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35370743	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35808787	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4373160	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58775257	0.85[EUR][1000 genomes]
rs59462153	0.83[EUR][1000 genomes]
rs67277942	0.85[EUR][1000 genomes]
rs72669993	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72669995	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72669997	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72669998	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72670002	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72671805	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671808	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671809	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671810	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671811	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671815	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671820	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671824	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671826	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671828	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671852	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72671854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671855	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671858	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671861	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671862	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671863	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671866	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671870	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671873	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671874	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671878	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671879	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671880	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671881	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671886	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671889	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671892	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671895	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671896	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673803	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673805	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673811	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673812	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673813	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673817	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673821	0.89[AMR][1000 genomes]
rs72673822	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673823	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673824	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673828	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673831	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673832	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673834	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673853	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673855	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673858	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673860	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673865	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673870	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673872	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673873	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673888	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72673889	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72673890	0.80[AMR][1000 genomes]
rs72673891	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7676975	0.86[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	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv879700	chr4:106643445-106745057	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000947	chr4:106651153-106701679	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106631000-106663000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:106631000-106669400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:106634000-106693200	Weak transcription	K562	blood
4	chr4:106635600-106665000	Weak transcription	HUVEC	blood vessel
5	chr4:106635600-106669800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:106637200-106660800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr4:106643000-106662600	Weak transcription	Fetal Kidney	kidney
8	chr4:106648000-106669800	Weak transcription	HSMM	muscle
9	chr4:106657000-106660800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:106657000-106660800	Weak transcription	Thymus	Thymus
11	chr4:106657000-106661000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:106657000-106661000	Weak transcription	Fetal Intestine Small	intestine
13	chr4:106657000-106661000	Weak transcription	Fetal Thymus	thymus
14	chr4:106657000-106661000	Weak transcription	Pancreas	Pancrea
15	chr4:106657000-106661000	Weak transcription	Spleen	Spleen
16	chr4:106657000-106662400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:106657000-106663000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:106657000-106669800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:106657000-106669800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:106657000-106670000	Weak transcription	Gastric	stomach
21	chr4:106657000-106670200	Weak transcription	Ovary	ovary
22	chr4:106658600-106661400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:106659000-106669800	Weak transcription	Dnd41	blood
24	chr4:106659200-106661000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:106659200-106661000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:106659200-106661600	Weak transcription	NHEK	skin
27	chr4:106659200-106663000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:106659200-106666800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:106659200-106667200	Weak transcription	A549	lung
30	chr4:106659200-106669800	Weak transcription	Left Ventricle	heart
31	chr4:106659400-106660600	Weak transcription	Primary B cells from cord blood	blood
32	chr4:106659400-106660800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:106659400-106660800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:106659400-106660800	Weak transcription	Fetal Stomach	stomach
35	chr4:106659400-106662000	Weak transcription	Fetal Brain Male	brain
36	chr4:106659400-106662200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:106659400-106662400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:106659400-106662800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr4:106659400-106663600	Weak transcription	Aorta	Aorta
40	chr4:106659400-106664800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:106659400-106668600	Weak transcription	Primary T cells from cord blood	blood
42	chr4:106659400-106679400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:106659400-106686400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:106659600-106660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:106659600-106660800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:106659600-106660800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:106659600-106661000	Weak transcription	Fetal Muscle Leg	muscle
48	chr4:106659600-106662800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:106659600-106665200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr4:106659600-106666400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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