Variant report

Variant	rs2665739
Chromosome Location	chr12:104969135-104969136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104963784..104965838-chr12:104968298..104971242,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10746003	0.81[AFR][1000 genomes]
rs12829137	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs12829561	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1553836	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1628116	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1704889	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1704896	0.88[ASN][1000 genomes]
rs1704916	0.88[CHD][hapmap]
rs1704917	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1795855	0.88[CHD][hapmap]
rs1795857	0.88[CHD][hapmap]
rs1795859	0.88[CHD][hapmap]
rs1795862	0.82[CHB][hapmap]
rs1795864	0.82[CHB][hapmap]
rs1795865	0.88[ASN][1000 genomes]
rs1795867	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1795870	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1795872	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1973589	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs2665740	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs313315	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs313325	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs34725367	0.83[ASN][1000 genomes]
rs35791423	0.83[ASN][1000 genomes]
rs71440862	0.88[ASN][1000 genomes]
rs71468217	0.88[ASN][1000 genomes]
rs71468218	0.88[ASN][1000 genomes]
rs865606	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	esv3505351	chr12:104969025-104970732	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3504045	chr12:104969107-104970720	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3412280	chr12:104969110-104970743	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2665739	NUAK1	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:104958400-104972400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:104960600-104970600	Weak transcription	Right Atrium	heart
4	chr12:104961800-104972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:104962200-104969400	Weak transcription	Pancreas	Pancrea
6	chr12:104962200-104969800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:104962400-104971200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:104963400-104974800	Weak transcription	Gastric	stomach
9	chr12:104964200-104970600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:104964200-104974800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:104964200-104976000	Weak transcription	Primary T cells from cord blood	blood
12	chr12:104964400-104969200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:104964400-104972800	Weak transcription	Spleen	Spleen
14	chr12:104964600-104969800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:104964800-104970600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:104965200-104975400	Weak transcription	Placenta	Placenta
17	chr12:104965400-104970000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:104965400-104970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:104965400-104971600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:104965400-104971600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:104965400-104982200	Weak transcription	Left Ventricle	heart
22	chr12:104965600-104970000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:104965600-104970000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:104967400-104970000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:104968800-104969200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:104968800-104969200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:104968800-104969600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:104968800-104969600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr12:104968800-104969800	Enhancers	Thymus	Thymus
30	chr12:104968800-104970000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr12:104968800-104970400	Genic enhancers	Fetal Thymus	thymus
32	chr12:104968800-104970400	Enhancers	K562	blood
33	chr12:104968800-104970600	Enhancers	Primary B cells from cord blood	blood
34	chr12:104968800-104971000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:104968800-104971000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:104968800-104971200	Enhancers	Osteobl	bone
37	chr12:104968800-104971400	Enhancers	Primary B cells from peripheral blood	blood
38	chr12:104968800-104974200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:104969000-104969200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:104969000-104969200	Enhancers	NH-A	brain
43	chr12:104969000-104969400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:104969000-104969400	Enhancers	Duodenum Mucosa	Duodenum
45	chr12:104969000-104969400	Enhancers	A549	lung
46	chr12:104969000-104969400	Genic enhancers	Dnd41	blood
47	chr12:104969000-104969800	Enhancers	GM12878-XiMat	blood
48	chr12:104969000-104970000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:104969000-104971000	Enhancers	Lung	lung
50	chr12:104969000-104971200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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