Variant report

Variant	rs1164751
Chromosome Location	chr12:105077284-105077285
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	chr12:105071577..105074645-chr12:105076983..105080645,3	MCF-7	breast:
2	chr12:105074936..105077629-chr12:105083624..105085773,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12581753	1.00[ASW][hapmap]
rs73191435	0.86[AMR][1000 genomes]

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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1164751	ALDH1L2	cis	cerebellum	SCAN
rs1164751	TCP11L2	cis	parietal	SCAN
rs1164751	ZNF701	trans	cerebellum	SCAN
rs1164751	SALL3	trans	lymphoblastoid	seeQTL
rs1164751	IGF1	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105066600-105077800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:105067800-105078600	Weak transcription	Brain Substantia Nigra	brain
3	chr12:105067800-105096000	Weak transcription	K562	blood
4	chr12:105068000-105077600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:105068200-105078600	Weak transcription	NHDF-Ad	bronchial
6	chr12:105071200-105085800	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:105071800-105079200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:105071800-105085800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:105072200-105079400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:105072200-105089000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:105073000-105077400	Weak transcription	Fetal Heart	heart
12	chr12:105074000-105085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:105074200-105083200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:105074400-105077800	Weak transcription	Spleen	Spleen
15	chr12:105074400-105079800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:105074600-105079400	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:105074600-105089400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:105075000-105083200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:105075600-105078000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr12:105075800-105077600	Enhancers	Fetal Thymus	thymus
21	chr12:105076000-105077800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:105076000-105078200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:105076000-105080200	Enhancers	Fetal Stomach	stomach
24	chr12:105076200-105077400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr12:105076200-105077600	Enhancers	Right Ventricle	heart
26	chr12:105076200-105080400	Enhancers	Colon Smooth Muscle	Colon
27	chr12:105076600-105077600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:105076600-105080000	Weak transcription	A549	lung
29	chr12:105076800-105077600	Enhancers	Primary B cells from peripheral blood	blood
30	chr12:105076800-105077600	Enhancers	Thymus	Thymus
31	chr12:105076800-105077800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:105076800-105077800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:105076800-105078200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr12:105076800-105078200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:105076800-105078400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr12:105076800-105078600	Weak transcription	Adipose Nuclei	Adipose
37	chr12:105076800-105078800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:105076800-105079200	Weak transcription	Small Intestine	intestine
39	chr12:105076800-105079400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr12:105076800-105079800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr12:105076800-105081000	Enhancers	Dnd41	blood
42	chr12:105076800-105081600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:105076800-105081800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr12:105076800-105083600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr12:105076800-105085600	Enhancers	Primary hematopoietic stem cells	blood
46	chr12:105076800-105086800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:105077000-105077400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:105077000-105077400	Weak transcription	Brain Anterior Caudate	brain
49	chr12:105077000-105077800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:105077000-105077800	Weak transcription	Right Atrium	heart

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