Variant report

Variant	rs60558126
Chromosome Location	chr2:183856746-183856747
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183856353..183858960-chr2:183895348..183897886,2	K562	blood:
2	chr2:183854920..183857735-chr2:183869263..183871227,2	K562	blood:
3	chr2:183856507..183858799-chr2:183887931..183890919,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11885629	1.00[EUR][1000 genomes]
rs11885833	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11888086	1.00[EUR][1000 genomes]
rs11892717	1.00[EUR][1000 genomes]
rs11896088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823829	1.00[EUR][1000 genomes]
rs16823945	1.00[EUR][1000 genomes]
rs16823948	1.00[EUR][1000 genomes]
rs16823949	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823966	1.00[EUR][1000 genomes]
rs4358084	1.00[EUR][1000 genomes]
rs55803212	1.00[EUR][1000 genomes]
rs55886059	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56179717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56344408	1.00[EUR][1000 genomes]
rs56362542	1.00[EUR][1000 genomes]
rs57047150	1.00[EUR][1000 genomes]
rs58515193	1.00[EUR][1000 genomes]
rs59308931	1.00[EUR][1000 genomes]
rs60602756	1.00[EUR][1000 genomes]
rs6733333	1.00[EUR][1000 genomes]
rs6736252	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6742298	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6757286	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]
rs73042166	1.00[EUR][1000 genomes]
rs73046211	1.00[EUR][1000 genomes]
rs73046213	1.00[EUR][1000 genomes]
rs73046217	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046218	1.00[EUR][1000 genomes]
rs73046222	1.00[EUR][1000 genomes]
rs73046226	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046232	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046257	1.00[EUR][1000 genomes]
rs73046260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73048203	1.00[EUR][1000 genomes]
rs73980523	1.00[EUR][1000 genomes]
rs73980527	1.00[EUR][1000 genomes]
rs7558834	1.00[EUR][1000 genomes]
rs7561870	1.00[EUR][1000 genomes]
rs7584932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7601416	1.00[EUR][1000 genomes]
rs7602182	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183773400-183866000	Weak transcription	Colonic Mucosa	Colon
2	chr2:183773400-183877800	Weak transcription	Stomach Mucosa	stomach
3	chr2:183780400-183874800	Weak transcription	Esophagus	oesophagus
4	chr2:183795400-183857600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:183804800-183859600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:183805600-183874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:183812000-183857800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:183812200-183874800	Weak transcription	Gastric	stomach
9	chr2:183812400-183856800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:183814600-183874800	Weak transcription	Aorta	Aorta
11	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:183818600-183860400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:183827000-183859000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:183827200-183874400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:183832000-183860000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:183833600-183864400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:183833600-183874800	Weak transcription	Brain Substantia Nigra	brain
18	chr2:183833600-183874800	Weak transcription	Pancreas	Pancrea
19	chr2:183833600-183878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:183833600-183879600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:183836400-183863400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:183836600-183867800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:183836800-183858000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:183837000-183863400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:183837000-183866600	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:183837200-183860800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:183837800-183866400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:183838400-183867000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:183838600-183865600	Weak transcription	Small Intestine	intestine
30	chr2:183839400-183858000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:183839600-183864400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:183839800-183868400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:183840800-183864200	Weak transcription	Fetal Brain Female	brain
34	chr2:183841200-183861000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr2:183841600-183868200	Strong transcription	HSMM	muscle
36	chr2:183842400-183874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:183842600-183857600	Weak transcription	Psoas Muscle	Psoas
38	chr2:183842600-183868800	Weak transcription	Right Ventricle	heart
39	chr2:183845200-183867600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:183846000-183856800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:183846000-183869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:183846000-183902000	Weak transcription	Lung	lung
43	chr2:183846200-183858000	Weak transcription	NHLF	lung
44	chr2:183846600-183861200	Weak transcription	Left Ventricle	heart
45	chr2:183847200-183867000	Strong transcription	HepG2	liver
46	chr2:183847400-183858200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:183847800-183858000	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:183848000-183864600	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:183848000-183866600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:183848600-183858000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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