Variant report

Variant	rs824724
Chromosome Location	chr12:42485519-42485520
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42473894..42476610-chr12:42483539..42485752,2	K562	blood:
2	chr12:42483747..42485881-chr12:42486053..42487820,2	MCF-7	breast:
3	chr12:42473894..42475644-chr12:42484252..42485777,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1069644	0.87[JPT][hapmap]
rs10880275	0.87[JPT][hapmap]
rs10880279	0.87[JPT][hapmap]
rs1226303	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1238290	0.87[JPT][hapmap]
rs1463613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1628871	1.00[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1683198	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1683202	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1688854	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1688874	0.81[AMR][1000 genomes]
rs1688879	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1688884	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1732350	0.80[AMR][1000 genomes]
rs1732351	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs1732352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1994284	0.81[AMR][1000 genomes]
rs3852592	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6582378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs6582392	0.87[JPT][hapmap]
rs712106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712119	0.87[JPT][hapmap]
rs712120	0.95[CEU][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes]
rs712122	0.86[JPT][hapmap]
rs712123	0.87[JPT][hapmap]
rs712125	0.87[JPT][hapmap]
rs712129	0.87[JPT][hapmap]
rs7303028	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7956016	0.87[JPT][hapmap]
rs7960176	0.87[JPT][hapmap]
rs7970115	0.94[JPT][hapmap]
rs7978993	0.87[JPT][hapmap]
rs824697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs824699	0.80[AMR][1000 genomes]
rs824716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs824717	0.81[AMR][1000 genomes]
rs824718	0.81[AMR][1000 genomes]
rs824722	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs824726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs824734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs824736	0.84[EUR][1000 genomes]
rs824738	0.95[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs824741	0.87[JPT][hapmap]
rs844046	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes]
rs865420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv2025559	chr12:42481619-42491335	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
2	chr12:42469400-42491800	Weak transcription	Ovary	ovary
3	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:42470800-42485600	Weak transcription	Aorta	Aorta
5	chr12:42471000-42504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:42471400-42485600	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:42471800-42486600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:42471800-42524400	Weak transcription	Esophagus	oesophagus
9	chr12:42472200-42487800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:42472800-42489000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:42474000-42496000	Weak transcription	Fetal Intestine Large	intestine
12	chr12:42474200-42486000	Weak transcription	GM12878-XiMat	blood
13	chr12:42474200-42487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:42474200-42490600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:42474600-42514400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:42474600-42518800	Weak transcription	Brain Anterior Caudate	brain
17	chr12:42474800-42487600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:42474800-42487600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:42474800-42491800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:42475000-42491800	Weak transcription	Brain Substantia Nigra	brain
21	chr12:42475400-42485600	Weak transcription	Left Ventricle	heart
22	chr12:42476000-42485600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:42476000-42524400	Weak transcription	Gastric	stomach
24	chr12:42476200-42487000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:42476200-42524400	Weak transcription	Pancreas	Pancrea
26	chr12:42476400-42487400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:42476400-42487600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:42476400-42489800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:42476600-42523800	Weak transcription	Hela-S3	cervix
30	chr12:42477600-42490400	Weak transcription	Thymus	Thymus
31	chr12:42478000-42489000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:42478000-42505000	Weak transcription	Lung	lung
33	chr12:42478400-42489600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:42478600-42487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:42478600-42511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:42479200-42496800	Weak transcription	Psoas Muscle	Psoas
37	chr12:42479400-42488600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:42479600-42505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:42479800-42489600	Weak transcription	Fetal Thymus	thymus
40	chr12:42480000-42489400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:42480000-42492400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:42480200-42489400	Weak transcription	Dnd41	blood
43	chr12:42480200-42489800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:42480200-42492000	Weak transcription	Brain Hippocampus Middle	brain
45	chr12:42480200-42505600	Weak transcription	Fetal Lung	lung
46	chr12:42480200-42512000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:42480600-42491600	Weak transcription	Fetal Heart	heart
48	chr12:42480600-42504600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:42480800-42487800	Weak transcription	K562	blood
50	chr12:42481400-42487600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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