Variant report

Variant	rs6488041
Chromosome Location	chr12:32426934-32426935
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32425311..32427428-chr12:32433944..32435788,2	K562	blood:
2	chr12:32424959..32427093-chr12:32439775..32442095,2	MCF-7	breast:
3	chr12:32418322..32421345-chr12:32425361..32428324,3	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11051878	0.86[ASN][1000 genomes]
rs11051880	0.86[ASN][1000 genomes]
rs11051882	0.96[ASN][1000 genomes]
rs11051883	0.97[ASN][1000 genomes]
rs11051889	0.87[ASN][1000 genomes]
rs11051891	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051893	0.87[ASN][1000 genomes]
rs11051894	0.84[ASN][1000 genomes]
rs11051895	0.82[ASN][1000 genomes]
rs11051902	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051903	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051904	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051905	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11051906	0.81[ASN][1000 genomes]
rs11051911	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11830737	0.82[ASN][1000 genomes]
rs11831258	0.95[ASN][1000 genomes]
rs12228244	0.86[ASN][1000 genomes]
rs12230502	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12231775	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12231791	0.86[ASN][1000 genomes]
rs12231813	0.96[ASN][1000 genomes]
rs12231822	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16919557	0.97[ASN][1000 genomes]
rs16919634	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58836617	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59655920	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60781342	0.82[ASN][1000 genomes]
rs61005955	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61286541	0.95[ASN][1000 genomes]
rs61560167	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6488040	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138319	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7300174	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7310041	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73310734	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73310736	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74072028	0.87[ASN][1000 genomes]
rs7958104	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32413400-32437600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:32418600-32428400	Weak transcription	Ovary	ovary
3	chr12:32422200-32427400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:32423400-32427000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:32423600-32427200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:32423600-32427200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:32423600-32427400	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:32423800-32427200	Enhancers	Fetal Intestine Large	intestine
9	chr12:32423800-32427800	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:32424000-32427000	Enhancers	Fetal Brain Female	brain
11	chr12:32424000-32427200	Enhancers	Fetal Intestine Small	intestine
12	chr12:32424400-32434200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:32424600-32438000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:32424800-32427400	Weak transcription	HSMMtube	muscle
15	chr12:32424800-32427800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:32425000-32433600	Weak transcription	HSMM	muscle
17	chr12:32425000-32437800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:32425200-32427200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr12:32425400-32427200	Flanking Active TSS	GM12878-XiMat	blood
20	chr12:32425600-32427000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:32425600-32427200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:32425600-32427200	Enhancers	Fetal Thymus	thymus
23	chr12:32425600-32427200	Enhancers	Thymus	Thymus
24	chr12:32425600-32427400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr12:32425800-32427400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr12:32426000-32427000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:32426000-32427000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:32426000-32427000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr12:32426000-32427000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:32426000-32427000	Enhancers	Brain Anterior Caudate	brain
31	chr12:32426000-32427000	Enhancers	Brain Germinal Matrix	brain
32	chr12:32426000-32427000	Enhancers	Fetal Brain Male	brain
33	chr12:32426000-32427000	Enhancers	Fetal Lung	lung
34	chr12:32426000-32427000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:32426000-32427000	Genic enhancers	NHLF	lung
36	chr12:32426000-32427200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:32426000-32427200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:32426000-32427200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:32426000-32427400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr12:32426200-32427000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:32426200-32427000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:32426200-32427000	Strong transcription	Aorta	Aorta
43	chr12:32426200-32427000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr12:32426200-32427000	Enhancers	Lung	lung
45	chr12:32426200-32427000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr12:32426200-32427200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr12:32426200-32427200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:32426200-32427200	Flanking Active TSS	K562	blood
49	chr12:32426400-32427000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:32426400-32427000	Enhancers	HUES64 Cell Line	embryonic stem cell

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