Variant report

Variant	rs11683786
Chromosome Location	chr2:11302200-11302201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11295929..11299678-chr2:11300609..11303606,5	K562	blood:
2	chr2:11301127..11303401-chr2:11313857..11316013,2	MCF-7	breast:
3	chr2:11294400..11297941-chr2:11298345..11302243,10	MCF-7	breast:
4	chr2:11296019..11298621-chr2:11300609..11302864,3	K562	blood:

Variant related genes	Relation type
ENSG00000162976	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11891302	0.80[ASN][1000 genomes]
rs11892387	0.81[ASN][1000 genomes]
rs11895098	0.80[ASN][1000 genomes]
rs12987956	0.80[MEX][hapmap]
rs13027444	0.81[ASN][1000 genomes]
rs13404430	0.81[CEU][hapmap]
rs17366643	0.81[CEU][hapmap]
rs1828930	0.86[CHB][hapmap]
rs2037107	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2271622	0.87[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.80[ASN][1000 genomes]
rs33985535	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35332442	0.86[AMR][1000 genomes]
rs3732103	0.92[MEX][hapmap]
rs3856468	0.89[CEU][hapmap];0.84[CHD][hapmap];0.82[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.84[EUR][1000 genomes]
rs4668715	0.80[ASN][1000 genomes]
rs4668716	0.80[ASN][1000 genomes]
rs4668717	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs4668718	0.99[ASN][1000 genomes]
rs4669697	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs62120155	0.81[EUR][1000 genomes]
rs7570428	0.84[EUR][1000 genomes]
rs7581322	0.91[CHB][hapmap]

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	nsv520789	chr2:11259067-11312224	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11683786	PQLC3	cis	Thyroid	GTEx
rs11683786	IAH1	cis	cerebellum	SCAN
rs11683786	ROCK2	cis	cerebellum	SCAN
rs11683786	PQLC3	cis	lung	GTEx
rs11683786	ROCK2	Cis_1M	lymphoblastoid	RTeQTL
rs11683786	C2orf50	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11296200-11329400	Weak transcription	Gastric	stomach
2	chr2:11296200-11412600	Weak transcription	Aorta	Aorta
3	chr2:11296400-11303600	Weak transcription	HSMMtube	muscle
4	chr2:11296400-11306400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:11296400-11307200	Weak transcription	Thymus	Thymus
6	chr2:11296400-11308600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:11296400-11309600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:11296400-11314200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:11296400-11314800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:11296400-11315200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:11296400-11315200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:11296400-11315400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:11296400-11318800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:11296600-11303600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:11296600-11304000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:11296600-11306200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:11296600-11315200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:11296600-11315200	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:11296600-11315200	Weak transcription	NHDF-Ad	bronchial
20	chr2:11296600-11319200	Weak transcription	Fetal Lung	lung
21	chr2:11296800-11303600	Weak transcription	Left Ventricle	heart
22	chr2:11296800-11303800	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:11296800-11304200	Weak transcription	Esophagus	oesophagus
24	chr2:11296800-11307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:11296800-11308000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:11296800-11309200	Weak transcription	Ovary	ovary
27	chr2:11296800-11315000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:11296800-11315200	Weak transcription	Brain Anterior Caudate	brain
29	chr2:11296800-11318200	Weak transcription	A549	lung
30	chr2:11296800-11379800	Weak transcription	Small Intestine	intestine
31	chr2:11297000-11303600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:11297000-11303800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:11297000-11305200	Weak transcription	Colonic Mucosa	Colon
34	chr2:11297000-11305800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:11297200-11303600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:11297600-11315200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:11297600-11394400	Weak transcription	Right Ventricle	heart
38	chr2:11297800-11303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:11297800-11315200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:11298200-11315400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:11298200-11317600	Weak transcription	Fetal Brain Male	brain
42	chr2:11299000-11304400	Strong transcription	Fetal Stomach	stomach
43	chr2:11299200-11357000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:11299400-11308800	Weak transcription	Pancreas	Pancrea
45	chr2:11299600-11308800	Weak transcription	Placenta	Placenta
46	chr2:11299800-11303800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:11300200-11303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:11300200-11315400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:11300400-11302400	Strong transcription	Lung	lung
50	chr2:11300600-11302400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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