Variant report

Variant	rs11632218
Chromosome Location	chr15:56396159-56396160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56385120..56387921-chr15:56395938..56398667,2	MCF-7	breast:
2	chr15:56389724..56392498-chr15:56393728..56396342,2	K562	blood:
3	chr15:56389724..56392748-chr15:56393728..56397126,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10152826	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs10162834	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10163161	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11858173	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11858245	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12899534	0.92[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12909153	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13379820	0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17238601	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1829543	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2460649	0.88[CEU][hapmap]
rs2465405	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2584689	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2682030	0.81[EUR][1000 genomes]
rs2682031	0.91[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs2682032	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2682050	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2682055	0.82[AMR][1000 genomes]
rs2713922	0.89[CEU][hapmap];0.80[AMR][1000 genomes]
rs2713934	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2713937	0.88[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs2713939	0.81[EUR][1000 genomes]
rs2718924	0.89[CEU][hapmap];0.80[JPT][hapmap];0.80[AMR][1000 genomes]
rs2725871	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2947023	0.81[EUR][1000 genomes]
rs35840822	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56274791	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60138831	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62044114	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6493836	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7170102	0.85[EUR][1000 genomes]
rs748344	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8041422	0.81[CEU][hapmap];0.82[CHB][hapmap];0.92[JPT][hapmap]
rs894415	0.92[CEU][hapmap];0.81[EUR][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	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv833018	chr15:56325799-56492535	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045906	chr15:56333180-56473614	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11632218	RFXDC2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56381600-56397000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:56382200-56399200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:56383800-56398400	Strong transcription	Dnd41	blood
4	chr15:56385600-56405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:56386400-56397400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr15:56386600-56396200	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr15:56388400-56402000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:56388800-56396200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:56388800-56396400	Weak transcription	Gastric	stomach
10	chr15:56388800-56396400	Weak transcription	Right Ventricle	heart
11	chr15:56388800-56396600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:56388800-56397400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:56388800-56398400	Weak transcription	Esophagus	oesophagus
14	chr15:56388800-56399000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:56388800-56399200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:56388800-56400600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:56388800-56403400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:56388800-56411600	Weak transcription	Fetal Stomach	stomach
19	chr15:56388800-56414400	Weak transcription	Thymus	Thymus
20	chr15:56388800-56418400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr15:56388800-56433000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:56388800-56437200	Weak transcription	Pancreas	Pancrea
23	chr15:56388800-56441600	Weak transcription	Lung	lung
24	chr15:56389000-56397200	Weak transcription	Hela-S3	cervix
25	chr15:56389000-56398400	Weak transcription	K562	blood
26	chr15:56389200-56396600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:56389400-56397200	Weak transcription	Fetal Kidney	kidney
28	chr15:56389400-56407600	Weak transcription	Brain Substantia Nigra	brain
29	chr15:56389400-56418400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:56389400-56418400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:56389600-56402000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:56389600-56414400	Weak transcription	HSMMtube	muscle
33	chr15:56389800-56415600	Weak transcription	Placenta	Placenta
34	chr15:56390000-56405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:56390000-56405600	Weak transcription	Fetal Intestine Small	intestine
36	chr15:56390200-56397200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr15:56390400-56398200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:56390400-56414400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:56390600-56396800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:56390600-56396800	Weak transcription	Fetal Muscle Leg	muscle
41	chr15:56390600-56398600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr15:56390600-56400400	Weak transcription	GM12878-XiMat	blood
43	chr15:56390600-56412600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:56390600-56413200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr15:56390600-56414200	Weak transcription	Fetal Lung	lung
46	chr15:56390600-56414200	Weak transcription	Left Ventricle	heart
47	chr15:56390600-56414600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:56390600-56416400	Weak transcription	HUVEC	blood vessel
49	chr15:56390600-56417400	Weak transcription	Adipose Nuclei	Adipose
50	chr15:56390600-56418000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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