Variant report

Variant	rs73062023
Chromosome Location	chr12:12176684-12176685
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:12170098..12171926-chr12:12175090..12178021,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11611671	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612107	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11613000	1.00[ASN][1000 genomes]
rs11613729	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11614162	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615635	0.88[EUR][1000 genomes]
rs12578240	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12578251	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12578996	1.00[AFR][1000 genomes]
rs73060021	1.00[ASN][1000 genomes]
rs73060038	1.00[ASN][1000 genomes]
rs73060040	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060042	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060051	0.82[EUR][1000 genomes]
rs73060058	1.00[ASN][1000 genomes]
rs73062031	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12164800-12179800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12170000-12176800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:12170600-12177600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:12170600-12177800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:12170800-12179200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:12171200-12185400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:12171400-12185200	Weak transcription	Spleen	Spleen
8	chr12:12171800-12185000	Weak transcription	Esophagus	oesophagus
9	chr12:12172200-12184600	Weak transcription	Thymus	Thymus
10	chr12:12173200-12178200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:12175400-12179000	Enhancers	Fetal Thymus	thymus
12	chr12:12175600-12177200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:12175600-12177200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:12175600-12185400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:12175800-12177400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:12175800-12177600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:12175800-12177800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:12175800-12178600	Flanking Active TSS	GM12878-XiMat	blood
19	chr12:12176000-12177600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:12176000-12177800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:12176000-12178400	Enhancers	Primary B cells from cord blood	blood
22	chr12:12176200-12177600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:12176400-12176800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:12176400-12177000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:12176400-12177400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:12176400-12177800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:12176400-12178000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:12176400-12179200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:12176600-12179000	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:12176600-12179000	Enhancers	Primary T helper cells fromperipheralblood	blood

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