Variant report

Variant	rs11676357
Chromosome Location	chr2:99108277-99108278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99104340..99107491-chr2:99108122..99111203,3	MCF-7	breast:
2	chr2:99098848..99102252-chr2:99105499..99109445,4	MCF-7	breast:
3	chr2:99106605..99108697-chr2:99112654..99115473,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13402379	0.88[LWK][hapmap]
rs1516085	0.88[LWK][hapmap]
rs222	0.95[CHB][hapmap];0.90[CHD][hapmap];0.84[ASN][1000 genomes]
rs3729568	0.88[ASW][hapmap];0.90[LWK][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes]
rs3754882	0.84[CHB][hapmap]
rs3754891	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs3769735	0.82[AFR][1000 genomes]
rs3769740	0.87[LWK][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs6542771	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs6542805	0.83[ASN][1000 genomes]
rs6542833	0.95[CHB][hapmap];0.84[CHD][hapmap]
rs6736755	0.88[LWK][hapmap]
rs7588254	0.87[LWK][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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11676357	ACTR1B	cis	parietal	SCAN
rs11676357	KIAA1310	cis	cerebellum	SCAN
rs11676357	ARID5A	cis	parietal	SCAN

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99072600-99119600	Weak transcription	Aorta	Aorta
2	chr2:99096800-99113600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:99097400-99110400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:99098400-99115200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:99100000-99111000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:99100200-99110400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:99100400-99121600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:99100600-99110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:99101000-99115200	Weak transcription	Fetal Lung	lung
10	chr2:99101600-99111200	Weak transcription	Fetal Brain Female	brain
11	chr2:99101600-99121200	Weak transcription	Gastric	stomach
12	chr2:99101600-99131400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:99101800-99108400	Weak transcription	A549	lung
14	chr2:99102200-99122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:99103200-99113200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:99103400-99110000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:99103400-99115200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:99103600-99113400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:99103600-99118400	Weak transcription	HSMMtube	muscle
20	chr2:99104000-99108400	Enhancers	Left Ventricle	heart
21	chr2:99104000-99109200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:99104000-99118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:99104400-99108800	Weak transcription	NHDF-Ad	bronchial
24	chr2:99104400-99110600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:99104600-99109000	Weak transcription	Osteobl	bone
26	chr2:99104600-99110600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:99104800-99108400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:99105000-99108400	Genic enhancers	Primary T cells from cord blood	blood
29	chr2:99105000-99110600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:99105000-99110600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:99105000-99110600	Weak transcription	K562	blood
32	chr2:99105200-99110800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr2:99105200-99120400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:99105400-99110600	Weak transcription	Fetal Intestine Small	intestine
35	chr2:99105400-99110600	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:99105600-99110600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:99105800-99108600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:99105800-99108800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:99105800-99109800	Enhancers	Right Ventricle	heart
40	chr2:99105800-99110400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr2:99106000-99109200	Enhancers	Stomach Smooth Muscle	stomach
42	chr2:99106000-99110600	Weak transcription	HepG2	liver
43	chr2:99106000-99111400	Weak transcription	Fetal Intestine Large	intestine
44	chr2:99106000-99115200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:99106400-99108400	Enhancers	Brain Substantia Nigra	brain
46	chr2:99106400-99108400	Enhancers	Ovary	ovary
47	chr2:99106600-99108600	Weak transcription	Psoas Muscle	Psoas
48	chr2:99106600-99111600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr2:99106800-99108800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr2:99106800-99108800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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