Variant report

Variant	rs73123148
Chromosome Location	chr2:234472567-234472568
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234347642..234349247-chr2:234472522..234474070,2	K562	blood:
2	chr2:234472035..234473937-chr2:234616865..234619680,2	MCF-7	breast:
3	chr2:234472037..234477650-chr2:234599067..234602356,8	MCF-7	breast:
4	chr2:234470715..234472722-chr2:234612737..234614853,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224814	Chromatin interaction
ENSG00000167165	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10171805	1.00[AMR][1000 genomes]
rs10182818	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13389374	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13390054	1.00[EUR][1000 genomes]
rs13395852	1.00[EUR][1000 genomes]
rs13398912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401703	1.00[EUR][1000 genomes]
rs13403667	1.00[EUR][1000 genomes]
rs13406202	1.00[EUR][1000 genomes]
rs28538197	1.00[AMR][1000 genomes]
rs28898571	1.00[EUR][1000 genomes]
rs28898573	1.00[EUR][1000 genomes]
rs28898598	1.00[EUR][1000 genomes]
rs28900378	1.00[EUR][1000 genomes]
rs28900380	1.00[EUR][1000 genomes]
rs28900396	1.00[EUR][1000 genomes]
rs28968515	1.00[EUR][1000 genomes]
rs28969703	1.00[EUR][1000 genomes]
rs28969712	1.00[EUR][1000 genomes]
rs28969974	1.00[EUR][1000 genomes]
rs28970005	1.00[EUR][1000 genomes]
rs28970006	1.00[EUR][1000 genomes]
rs28970014	1.00[EUR][1000 genomes]
rs28970015	1.00[EUR][1000 genomes]
rs34652311	1.00[EUR][1000 genomes]
rs45498701	1.00[EUR][1000 genomes]
rs45505392	1.00[EUR][1000 genomes]
rs45548336	1.00[EUR][1000 genomes]
rs45568235	1.00[EUR][1000 genomes]
rs56094972	1.00[AMR][1000 genomes]
rs73121108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123128	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123133	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123137	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73123150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7594222	1.00[EUR][1000 genomes]
rs9287602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv519876	chr2:234466843-234493048	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
2	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:234426200-234474000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:234428800-234474400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:234430200-234473800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:234430800-234472800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:234432200-234474800	Weak transcription	Spleen	Spleen
8	chr2:234432600-234474400	Weak transcription	Colonic Mucosa	Colon
9	chr2:234437200-234474400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:234441600-234474800	Weak transcription	Gastric	stomach
11	chr2:234442400-234474400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:234447800-234474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:234451200-234474200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:234453200-234474400	Weak transcription	Small Intestine	intestine
15	chr2:234453600-234474000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:234455400-234474400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:234456600-234474000	Weak transcription	Fetal Brain Male	brain
18	chr2:234457400-234474000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:234460600-234474000	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:234461800-234474000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:234463000-234474200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:234463200-234473400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:234466000-234474000	Weak transcription	Brain Substantia Nigra	brain
24	chr2:234466000-234474600	Weak transcription	Pancreas	Pancrea
25	chr2:234466200-234474200	Weak transcription	Fetal Intestine Large	intestine
26	chr2:234466400-234474000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:234466400-234474200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:234466400-234474400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:234466400-234474400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:234466400-234474800	Weak transcription	Esophagus	oesophagus
31	chr2:234466600-234473400	Weak transcription	NHLF	lung
32	chr2:234466600-234474000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:234466600-234474000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:234466600-234474000	Weak transcription	NH-A	brain
35	chr2:234466600-234474200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:234466600-234474200	Weak transcription	Thymus	Thymus
37	chr2:234466600-234474400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:234466600-234474400	Weak transcription	Aorta	Aorta
39	chr2:234466600-234474400	Weak transcription	Brain Angular Gyrus	brain
40	chr2:234466600-234474800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:234466800-234472800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:234466800-234472800	Weak transcription	HMEC	breast
43	chr2:234466800-234474400	Weak transcription	Ovary	ovary
44	chr2:234467400-234472800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:234467600-234474000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:234467800-234472800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:234467800-234472800	Weak transcription	Right Ventricle	heart
48	chr2:234467800-234474000	Weak transcription	Fetal Kidney	kidney
49	chr2:234467800-234474000	Weak transcription	Hela-S3	cervix
50	chr2:234467800-234474400	Weak transcription	Brain Inferior Temporal Lobe	brain

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