Variant report

Variant	rs28832369
Chromosome Location	chr2:183836394-183836395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183834989..183837241-chr2:183837791..183841103,4	K562	blood:
2	chr2:183828304..183831362-chr2:183835163..183837892,3	K562	blood:
3	chr2:183835830..183838428-chr2:183841874..183844132,2	K562	blood:

Variant related genes	Relation type
ENSG00000061676	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10177344	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10187158	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187800	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10221950	0.84[ASN][1000 genomes]
rs1022337	0.90[AFR][1000 genomes]
rs10497618	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10931055	0.84[AFR][1000 genomes]
rs13385317	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13399354	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271671	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368352	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28429165	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35285912	0.86[ASN][1000 genomes]
rs4427983	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4666603	0.84[AFR][1000 genomes]
rs62190103	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62190104	0.84[AFR][1000 genomes]
rs6719673	0.88[ASN][1000 genomes]
rs7510	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7562515	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9333279	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][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	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

No data

Chromatin state (count:96 , 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	chr2:183788200-183845600	Weak transcription	Lung	lung
5	chr2:183789200-183836400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:183793400-183840800	Weak transcription	Fetal Brain Male	brain
7	chr2:183795400-183857600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:183798600-183847000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:183804800-183859600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:183805600-183874400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:183812000-183839000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:183812000-183857800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:183812200-183838200	Weak transcription	Small Intestine	intestine
14	chr2:183812200-183842000	Weak transcription	Right Ventricle	heart
15	chr2:183812200-183874800	Weak transcription	Gastric	stomach
16	chr2:183812400-183856800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:183814600-183874800	Weak transcription	Aorta	Aorta
18	chr2:183814600-183893600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:183814800-183845600	Weak transcription	Ovary	ovary
20	chr2:183818600-183860400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:183820000-183838600	Weak transcription	Brain Anterior Caudate	brain
22	chr2:183820000-183850800	Weak transcription	Brain Angular Gyrus	brain
23	chr2:183821600-183841200	Weak transcription	Hela-S3	cervix
24	chr2:183822400-183841800	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:183822600-183837200	Weak transcription	Fetal Kidney	kidney
26	chr2:183824200-183839400	Weak transcription	HSMMtube	muscle
27	chr2:183827000-183859000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:183827200-183837000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:183827200-183849800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:183827200-183874400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:183827600-183836400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:183830800-183842000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr2:183831400-183838800	Weak transcription	Fetal Intestine Small	intestine
34	chr2:183831400-183841800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:183831400-183856000	Weak transcription	Fetal Stomach	stomach
36	chr2:183831600-183837200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:183832000-183860000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:183833600-183836400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:183833600-183836600	Weak transcription	NH-A	brain
40	chr2:183833600-183837000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:183833600-183837000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:183833600-183837000	Weak transcription	Fetal Brain Female	brain
43	chr2:183833600-183837000	Weak transcription	Placenta	Placenta
44	chr2:183833600-183837200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr2:183833600-183838400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr2:183833600-183841000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:183833600-183842000	Weak transcription	Left Ventricle	heart
48	chr2:183833600-183842000	Weak transcription	Psoas Muscle	Psoas
49	chr2:183833600-183847000	Weak transcription	Stomach Smooth Muscle	stomach
50	chr2:183833600-183864400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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