Variant report

Variant	rs72671811
Chromosome Location	chr4:106615603-106615604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:106615499-106615605	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106614729..106617409-chr4:106629462..106630998,2	MCF-7	breast:

Variant related genes	Relation type
ARHGEF38	TF binding region
ENSG00000138785	Chromatin interaction
ENSG00000138780	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:162)

rs_ID	r²[population]
rs10050159	0.83[EUR][1000 genomes]
rs10050333	0.83[EUR][1000 genomes]
rs10516525	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10516526	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10516527	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10516528	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10516529	0.81[EUR][1000 genomes]
rs11097901	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11722225	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11723225	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11723240	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11723639	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11724839	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11724884	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11726094	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11726124	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11726569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11726674	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11727189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727348	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11727500	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11727735	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727745	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11728044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11728716	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11728918	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11729003	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11730354	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11730365	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11730660	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11731386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11731417	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11731714	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11731938	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11732298	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11732629	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11732650	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11733093	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11733124	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11733150	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11733223	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11733225	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11733287	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11733654	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11734568	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11734571	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11735527	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11735851	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11736834	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11736859	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11737335	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11737741	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12374256	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17035960	0.80[AMR][1000 genomes]
rs17035971	0.80[AMR][1000 genomes]
rs17036027	0.80[AMR][1000 genomes]
rs17036052	0.80[AMR][1000 genomes]
rs17036066	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17036076	0.81[AMR][1000 genomes]
rs17036090	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17036105	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036129	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036139	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036142	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036156	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036177	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036189	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036225	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036230	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036258	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17036292	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17036308	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17036310	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17036327	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17036341	0.81[EUR][1000 genomes]
rs17331332	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28488297	0.83[EUR][1000 genomes]
rs34072732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35370743	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35808787	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4373160	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58775257	0.81[EUR][1000 genomes]
rs67277942	0.81[EUR][1000 genomes]
rs72669974	0.80[AMR][1000 genomes]
rs72669978	0.80[AMR][1000 genomes]
rs72669980	0.80[AMR][1000 genomes]
rs72669981	0.80[AMR][1000 genomes]
rs72669992	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72669993	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72669995	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72669997	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72669998	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72670002	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72671805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671810	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671820	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671826	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671835	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671836	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671837	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671840	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671844	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671849	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671852	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671853	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72671854	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671855	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671856	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671858	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671861	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671862	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671863	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671866	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671869	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671870	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671871	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671873	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671874	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671878	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671879	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671880	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671881	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671885	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671886	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671889	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671892	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671895	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671896	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673803	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673805	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673811	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673812	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673813	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673817	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673821	0.81[AMR][1000 genomes]
rs72673822	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673823	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673824	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673828	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673831	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673832	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673834	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673853	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673855	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673858	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673860	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673865	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673870	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673872	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673873	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673888	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72673889	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72673891	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7676975	0.83[EUR][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	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106587800-106629000	Weak transcription	Lung	lung
2	chr4:106600400-106628600	Weak transcription	Colonic Mucosa	Colon
3	chr4:106600600-106628400	Weak transcription	Stomach Mucosa	stomach
4	chr4:106601200-106628400	Weak transcription	Psoas Muscle	Psoas
5	chr4:106602000-106618600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:106602200-106621600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:106602200-106629200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:106602400-106618400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:106602400-106621600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr4:106602400-106628600	Weak transcription	Right Ventricle	heart
11	chr4:106602600-106620800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:106602600-106621200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:106602600-106621800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:106602600-106622200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr4:106602600-106628400	Weak transcription	Fetal Heart	heart
16	chr4:106602600-106629200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:106602800-106617200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr4:106602800-106619200	Strong transcription	Liver	Liver
19	chr4:106603000-106617200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:106603000-106620200	Strong transcription	Placenta	Placenta
21	chr4:106603000-106620400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:106603000-106620400	Strong transcription	Dnd41	blood
23	chr4:106603000-106621000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:106604200-106618600	Weak transcription	Spleen	Spleen
25	chr4:106604400-106616400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:106604400-106617000	Weak transcription	Pancreas	Pancrea
27	chr4:106604400-106629200	Weak transcription	Esophagus	oesophagus
28	chr4:106604400-106629200	Weak transcription	Gastric	stomach
29	chr4:106605400-106621600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:106606600-106620000	Strong transcription	Fetal Thymus	thymus
31	chr4:106606600-106628200	Weak transcription	Hela-S3	cervix
32	chr4:106607000-106617400	Strong transcription	Fetal Intestine Large	intestine
33	chr4:106607600-106626400	Weak transcription	Small Intestine	intestine
34	chr4:106609000-106620600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:106609200-106616400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:106609200-106620000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr4:106609200-106621600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr4:106609200-106625200	Strong transcription	HSMM	muscle
39	chr4:106609400-106621400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr4:106609600-106621200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:106610400-106619200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:106610400-106628800	Weak transcription	Fetal Kidney	kidney
43	chr4:106610600-106619400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:106610600-106628200	Weak transcription	Fetal Brain Male	brain
45	chr4:106610600-106628600	Weak transcription	A549	lung
46	chr4:106610800-106621200	Weak transcription	Brain Substantia Nigra	brain
47	chr4:106610800-106628600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr4:106611000-106619800	Weak transcription	Left Ventricle	heart
49	chr4:106611400-106616400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:106611400-106617400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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