Variant report

Variant	rs72617183
Chromosome Location	chr2:233728063-233728064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233725493..233728211-chr2:233788384..233791443,3	K562	blood:
2	chr2:233725993..233729161-chr2:233734807..233736601,3	K562	blood:
3	chr2:233727449..233731351-chr2:233736566..233741117,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12612786	0.85[ASN][1000 genomes]
rs12619228	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12622056	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12623408	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2241979	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289912	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3738902	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816335	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72617178	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72617179	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72617180	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72617181	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72617182	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72617184	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233701000-233729200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:233712000-233728200	Strong transcription	Fetal Stomach	stomach
4	chr2:233722400-233728200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:233722400-233728400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:233722800-233738000	Weak transcription	Stomach Mucosa	stomach
7	chr2:233723000-233733200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:233723000-233740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:233723200-233728600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:233723200-233733200	Weak transcription	Small Intestine	intestine
11	chr2:233723200-233736600	Weak transcription	Colonic Mucosa	Colon
12	chr2:233723200-233738600	Weak transcription	K562	blood
13	chr2:233723600-233728400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:233723600-233729800	Weak transcription	HUVEC	blood vessel
15	chr2:233723600-233734200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:233723600-233735200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:233723600-233736400	Weak transcription	Right Ventricle	heart
18	chr2:233723600-233736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:233724000-233728400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:233724000-233729200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:233724000-233729600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:233724000-233734600	Weak transcription	Brain Substantia Nigra	brain
23	chr2:233724000-233736000	Weak transcription	Fetal Brain Male	brain
24	chr2:233724200-233732200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr2:233724200-233733800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:233724200-233738600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:233724400-233734200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:233724600-233728200	Weak transcription	NHDF-Ad	bronchial
29	chr2:233724600-233729600	Weak transcription	Aorta	Aorta
30	chr2:233724600-233734200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:233724600-233738600	Weak transcription	Esophagus	oesophagus
32	chr2:233724800-233732800	Weak transcription	Hela-S3	cervix
33	chr2:233724800-233734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:233725000-233728800	Weak transcription	GM12878-XiMat	blood
35	chr2:233725000-233735800	Weak transcription	Fetal Thymus	thymus
36	chr2:233726000-233729400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr2:233726000-233730400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:233726000-233733400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:233726000-233737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:233726000-233740400	Weak transcription	HMEC	breast
41	chr2:233726200-233728200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:233726200-233735000	Weak transcription	Brain Angular Gyrus	brain
43	chr2:233726200-233735600	Weak transcription	Osteobl	bone
44	chr2:233726200-233737400	Weak transcription	Fetal Brain Female	brain
45	chr2:233726400-233728400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:233726400-233729600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:233726400-233729600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:233726400-233730600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:233726400-233731000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:233726400-233731400	Weak transcription	Ovary	ovary

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