Variant report

Variant	rs715664
Chromosome Location	chr12:104499077-104499078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104492807..104495582-chr12:104496418..104499208,2	K562	blood:
2	chr12:104490638..104494307-chr12:104496418..104499192,3	K562	blood:

Variant related genes	Relation type
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10861159	0.92[ASN][1000 genomes]
rs10861160	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs12230870	0.85[EUR][1000 genomes]
rs2466551	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2629745	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2629754	0.97[ASN][1000 genomes]
rs2629755	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2700499	0.82[ASN][1000 genomes]
rs2930856	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4964534	0.97[ASN][1000 genomes]
rs7306771	0.86[JPT][hapmap]
rs7309185	0.91[JPT][hapmap]
rs7315351	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
2	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
3	chr12:104471000-104499600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:104471400-104500000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:104472400-104501200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:104477200-104508400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:104478600-104499400	Weak transcription	Fetal Heart	heart
8	chr12:104480000-104508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:104481000-104499400	Weak transcription	Stomach Mucosa	stomach
10	chr12:104481000-104500800	Weak transcription	K562	blood
11	chr12:104482800-104508200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:104485000-104500800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:104486200-104503000	Weak transcription	Small Intestine	intestine
14	chr12:104487200-104499800	Strong transcription	HSMM	muscle
15	chr12:104489200-104502600	Weak transcription	Psoas Muscle	Psoas
16	chr12:104491000-104508600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:104492000-104499200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:104492000-104512400	Weak transcription	HMEC	breast
19	chr12:104493200-104502200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr12:104493200-104512400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:104493200-104514400	Weak transcription	NHEK	skin
22	chr12:104493400-104500800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:104493400-104502400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:104493400-104502600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:104493400-104502600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:104493400-104502600	Weak transcription	Dnd41	blood
27	chr12:104493400-104502800	Weak transcription	A549	lung
28	chr12:104493400-104511800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:104493400-104513400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:104493400-104514400	Weak transcription	Brain Substantia Nigra	brain
31	chr12:104493400-104519200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:104493400-104519800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:104493600-104502600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:104493600-104505000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:104493600-104510800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:104493600-104517400	Weak transcription	Right Ventricle	heart
37	chr12:104493800-104515400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:104493800-104518400	Weak transcription	Gastric	stomach
39	chr12:104493800-104530600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:104494200-104502600	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:104494200-104502800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:104494200-104509200	Weak transcription	Fetal Brain Male	brain
43	chr12:104494400-104500800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:104494400-104502600	Weak transcription	Thymus	Thymus
45	chr12:104494400-104508000	Weak transcription	GM12878-XiMat	blood
46	chr12:104494400-104513600	Weak transcription	Brain Germinal Matrix	brain
47	chr12:104494400-104514000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:104494400-104516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:104494400-104516200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:104494400-104521000	Weak transcription	Lung	lung

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