Variant report

Variant	rs73042166
Chromosome Location	chr2:183776814-183776815
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	chr2:183775532..183777640-chr2:183990491..183993127,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs11885629	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11885833	1.00[EUR][1000 genomes]
rs11888086	1.00[EUR][1000 genomes]
rs11892717	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11896088	1.00[EUR][1000 genomes]
rs16823829	1.00[EUR][1000 genomes]
rs16823945	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823948	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823949	1.00[EUR][1000 genomes]
rs16823966	1.00[EUR][1000 genomes]
rs16823968	0.81[AFR][1000 genomes]
rs2102770	0.81[AFR][1000 genomes]
rs4358084	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55803212	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55886059	1.00[EUR][1000 genomes]
rs56179717	1.00[EUR][1000 genomes]
rs56344408	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56362542	1.00[EUR][1000 genomes]
rs57047150	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58515193	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59253255	1.00[AMR][1000 genomes]
rs59308931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60558126	1.00[EUR][1000 genomes]
rs60602756	1.00[EUR][1000 genomes]
rs6733333	1.00[EUR][1000 genomes]
rs6736252	1.00[EUR][1000 genomes]
rs6757286	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73037284	1.00[EUR][1000 genomes]
rs73040079	1.00[EUR][1000 genomes]
rs73040083	1.00[EUR][1000 genomes]
rs73040085	1.00[EUR][1000 genomes]
rs73040088	1.00[EUR][1000 genomes]
rs73042107	1.00[EUR][1000 genomes]
rs73042129	1.00[EUR][1000 genomes]
rs73042136	1.00[EUR][1000 genomes]
rs73042149	1.00[EUR][1000 genomes]
rs73046211	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046213	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046217	1.00[EUR][1000 genomes]
rs73046218	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046222	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046226	1.00[EUR][1000 genomes]
rs73046232	1.00[EUR][1000 genomes]
rs73046235	1.00[EUR][1000 genomes]
rs73046257	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046260	1.00[EUR][1000 genomes]
rs73048203	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980523	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73980527	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7558834	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561870	1.00[EUR][1000 genomes]
rs7584932	1.00[EUR][1000 genomes]
rs7601416	1.00[EUR][1000 genomes]
rs7602182	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183757400-183797800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:183759600-183777000	Weak transcription	HSMMtube	muscle
3	chr2:183762000-183778000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:183762600-183778000	Weak transcription	NHLF	lung
5	chr2:183765200-183792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:183765600-183805200	Weak transcription	Gastric	stomach
7	chr2:183766800-183779400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:183768600-183777800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:183768600-183778200	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:183768600-183779800	Weak transcription	Fetal Heart	heart
11	chr2:183768600-183811600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:183769800-183778400	Weak transcription	HMEC	breast
13	chr2:183769800-183779400	Weak transcription	Brain Anterior Caudate	brain
14	chr2:183769800-183811800	Weak transcription	Small Intestine	intestine
15	chr2:183770600-183786000	Weak transcription	Brain Substantia Nigra	brain
16	chr2:183770800-183777800	Weak transcription	Fetal Lung	lung
17	chr2:183770800-183779400	Weak transcription	Fetal Brain Female	brain
18	chr2:183770800-183779600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:183770800-183787200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:183772400-183779600	Strong transcription	HSMM	muscle
21	chr2:183772400-183780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:183772400-183791000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:183772400-183799200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:183772400-183811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:183772600-183778800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:183772600-183778800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:183772800-183777200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:183772800-183777600	Weak transcription	HUVEC	blood vessel
29	chr2:183772800-183779600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:183772800-183780000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:183772800-183786200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:183773200-183779600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:183773400-183779400	Weak transcription	Fetal Intestine Small	intestine
34	chr2:183773400-183779800	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:183773400-183781000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
37	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
38	chr2:183773600-183779600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:183773600-183785000	Weak transcription	Fetal Kidney	kidney
40	chr2:183773600-183793000	Weak transcription	Fetal Brain Male	brain
41	chr2:183773800-183779600	Weak transcription	Brain Angular Gyrus	brain
42	chr2:183773800-183779800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:183773800-183779800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:183774000-183779000	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:183774000-183779400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:183774000-183779800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr2:183774200-183777000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr2:183774400-183777200	Strong transcription	A549	lung
49	chr2:183774400-183779800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:183774800-183779600	Strong transcription	NH-A	brain

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