Variant report

Variant	rs12318558
Chromosome Location	chr12:49500399-49500400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49499760..49506124-chr12:49657415..49661017,8	K562	blood:
2	chr12:49497954..49506685-chr12:49522695..49526444,13	MCF-7	breast:
3	chr12:49497683..49501522-chr12:49502793..49506157,6	MCF-7	breast:
4	chr12:49500184..49504763-chr12:49658087..49663330,8	K562	blood:
5	chr12:49493937..49507579-chr12:49519161..49528577,46	K562	blood:
6	chr12:49409658..49414587-chr12:49499656..49504173,4	K562	blood:
7	chr12:49492241..49495096-chr12:49499639..49501320,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000139636	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000123416	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11610308	1.00[CHB][hapmap]
rs11833860	1.00[CHB][hapmap]
rs12318316	0.95[MKK][hapmap]
rs12424638	1.00[CHB][hapmap]
rs3741624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7311091	1.00[JPT][hapmap]
rs833823	1.00[CHB][hapmap]
rs833836	1.00[JPT][hapmap]

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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49489400-49501200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:49489400-49501400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:49489600-49500800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:49489600-49500800	Strong transcription	Thymus	Thymus
5	chr12:49489600-49501200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:49489600-49502800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:49489800-49500600	Strong transcription	Liver	Liver
8	chr12:49489800-49501000	Weak transcription	Fetal Heart	heart
9	chr12:49489800-49502000	Strong transcription	Fetal Stomach	stomach
10	chr12:49490000-49503000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:49490200-49501200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:49490400-49500800	Strong transcription	Primary T cells from cord blood	blood
13	chr12:49490400-49500800	Strong transcription	Colonic Mucosa	Colon
14	chr12:49490400-49500800	Strong transcription	HSMMtube	muscle
15	chr12:49490400-49501000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:49490400-49501200	Strong transcription	Primary B cells from cord blood	blood
17	chr12:49490400-49501200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr12:49490400-49501400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:49490400-49501600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:49490400-49501800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:49490600-49500800	Strong transcription	Brain Cingulate Gyrus	brain
22	chr12:49490600-49500800	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:49490600-49500800	Strong transcription	HSMM	muscle
24	chr12:49490600-49501000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:49490600-49501000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr12:49490600-49501000	Strong transcription	Dnd41	blood
27	chr12:49490600-49501200	Strong transcription	Primary hematopoietic stem cells	blood
28	chr12:49490600-49501200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:49491200-49501400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:49492000-49501200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr12:49492600-49500800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:49492800-49501600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:49493000-49500600	Strong transcription	Fetal Lung	lung
34	chr12:49493000-49500800	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr12:49493000-49500800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr12:49493200-49500600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr12:49493600-49500800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr12:49493600-49501200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:49493800-49501400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr12:49494000-49500800	Strong transcription	Rectal Smooth Muscle	rectum
41	chr12:49494000-49500800	Strong transcription	HepG2	liver
42	chr12:49494200-49500800	Strong transcription	Aorta	Aorta
43	chr12:49495000-49501400	Strong transcription	NHLF	lung
44	chr12:49496000-49502600	Weak transcription	Stomach Mucosa	stomach
45	chr12:49496600-49500800	Weak transcription	Small Intestine	intestine
46	chr12:49496600-49501600	Genic enhancers	Right Ventricle	heart
47	chr12:49496800-49500800	Genic enhancers	Placenta	Placenta
48	chr12:49497000-49501800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr12:49497400-49500800	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr12:49497400-49500800	Genic enhancers	Adipose Nuclei	Adipose

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