Variant report

Variant	rs11611979
Chromosome Location	chr12:104918923-104918924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11112088	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11608669	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs7970489	0.83[AFR][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11611979	SYCP3	cis	cerebellum	SCAN
rs11611979	MCART6	trans	parietal	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104901200-104919200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:104908600-104920600	Weak transcription	Right Ventricle	heart
4	chr12:104909400-104919200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:104909400-104919400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:104909800-104919400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:104911000-104921800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:104912000-104919200	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:104912800-104919200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:104913600-104919600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:104914000-104921200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:104914400-104919400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:104914600-104920400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:104914800-104919600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:104914800-104919600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:104914800-104920200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr12:104915200-104919800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:104915400-104920200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:104915600-104919600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:104915600-104920000	Weak transcription	Brain Germinal Matrix	brain
21	chr12:104915600-104936600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:104915800-104920200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:104916400-104919200	Enhancers	Primary T cells from cord blood	blood
24	chr12:104916600-104923000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:104916800-104919200	Enhancers	Rectal Smooth Muscle	rectum
26	chr12:104916800-104920600	Enhancers	Colon Smooth Muscle	Colon
27	chr12:104917000-104919200	Enhancers	Fetal Heart	heart
28	chr12:104917200-104925800	Weak transcription	Lung	lung
29	chr12:104917400-104919200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:104917400-104919200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:104917600-104919000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:104917600-104919000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:104917600-104921200	Enhancers	K562	blood
34	chr12:104917600-104924600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:104917800-104919000	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:104917800-104919000	Enhancers	GM12878-XiMat	blood
37	chr12:104917800-104919400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:104917800-104921000	Weak transcription	Right Atrium	heart
39	chr12:104917800-104922600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:104917800-104922600	Weak transcription	NHEK	skin
41	chr12:104917800-104922800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:104917800-104928200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:104918000-104919000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:104918000-104934200	Weak transcription	A549	lung
45	chr12:104918200-104919400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:104918200-104919600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr12:104918200-104920000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:104918200-104920200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:104918200-104920200	Weak transcription	Fetal Thymus	thymus
50	chr12:104918200-104921400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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