Variant report

Variant	rs17036189
Chromosome Location	chr4:106687959-106687960
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106683001..106684597-chr4:106687695..106689266,2	K562	blood:

Extended variants
information (count: 158 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:155)

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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10516527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10516528	1.00[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11723225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11723240	1.00[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11724884	1.00[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11726569	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11726674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11727189	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11727348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11727500	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11728044	0.82[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11729003	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11730354	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11730365	1.00[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	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11731417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11731714	1.00[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	1.00[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11733093	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11733124	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11733150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11733223	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11733225	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11733287	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11733654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11734568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11734571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11735527	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11737335	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11737741	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12374256	0.82[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	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036123	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036125	0.82[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036142	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17036156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036177	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17036230	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17036310	0.91[AFR][1000 genomes];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	0.82[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	1.00[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	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671808	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671809	0.82[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	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671815	0.82[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	0.82[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	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671835	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671836	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671837	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671840	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671844	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72671849	0.82[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72671854	0.82[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	0.82[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	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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671870	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671871	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671873	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671880	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671885	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671886	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72671896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673812	1.00[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	1.00[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72673831	1.00[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]
rs72673849	0.84[AFR][1000 genomes]
rs72673853	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673855	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673858	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673860	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673865	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673872	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72673873	0.91[AFR][1000 genomes];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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17036189	INTS12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106634000-106693200	Weak transcription	K562	blood
2	chr4:106659600-106691800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:106661600-106696800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:106663800-106688600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:106685200-106688800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:106685400-106700000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:106686400-106696800	Weak transcription	Fetal Stomach	stomach
8	chr4:106686600-106689200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:106687000-106688000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:106687000-106698400	Weak transcription	Fetal Lung	lung
11	chr4:106687200-106688000	Enhancers	HUVEC	blood vessel
12	chr4:106687200-106688000	Enhancers	Osteobl	bone
13	chr4:106687200-106689000	Enhancers	HMEC	breast
14	chr4:106687200-106689400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:106687400-106688400	Enhancers	NHLF	lung
16	chr4:106687400-106696800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:106687600-106690400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:106687600-106691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:106687600-106692000	Weak transcription	NHEK	skin
20	chr4:106687600-106696800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:106687600-106697200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:106687800-106688200	Weak transcription	NHDF-Ad	bronchial
23	chr4:106687800-106699600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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