Variant report

Variant	rs4243952
Chromosome Location	chr11:4619236-4619237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4618307..4620413-chr11:4621041..4623976,4	K562	blood:
2	chr11:4614691..4617476-chr11:4618507..4620828,3	K562	blood:

Variant related genes	Relation type
ENSG00000167333	Chromatin interaction
ENSG00000232268	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1001697	0.96[CEU][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1009240	0.81[GIH][hapmap]
rs10836325	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10836328	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10836331	0.86[ASN][1000 genomes]
rs10836350	0.81[EUR][1000 genomes]
rs11032955	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11032968	0.81[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11032977	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11601317	0.80[EUR][1000 genomes]
rs12420345	0.84[EUR][1000 genomes]
rs1505204	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17314159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2231963	1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs2231970	0.81[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs3750992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910511	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910512	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4910633	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910634	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910635	0.81[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4910638	0.98[ASN][1000 genomes]
rs7943486	0.81[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs931811	0.87[CHB][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap]
rs984496	0.81[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs999818	0.87[CHB][hapmap];0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043803	chr11:4388448-4837042	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv540916	chr11:4388448-4837042	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1048224	chr11:4390227-4920324	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
4	nsv540917	chr11:4390227-4920324	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	nsv896911	chr11:4400801-4806872	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	nsv1052736	chr11:4519302-4635855	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv540921	chr11:4519302-4635855	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1047344	chr11:4524493-4630740	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv2762892	chr11:4541825-4619236	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv832055	chr11:4550894-4736340	Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv870335	chr11:4568743-4654458	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1054705	chr11:4582150-4687238	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	esv3424302	chr11:4585155-4880050	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
14	nsv896914	chr11:4587940-4631352	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv553173	chr11:4587940-4689742	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1054801	chr11:4590126-4689520	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv540923	chr11:4590126-4689520	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv553174	chr11:4592718-4682376	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv1041836	chr11:4594628-4685732	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv540924	chr11:4594628-4685732	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv1047741	chr11:4598125-4689520	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv540925	chr11:4598125-4689520	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4243952	SLC25A22	cis	parietal	SCAN
rs4243952	DNHD1	cis	cerebellum	SCAN
rs4243952	OR52K1	cis	cerebellum	SCAN
rs4243952	SMAD7	trans	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4610000-4619600	Weak transcription	Left Ventricle	heart
2	chr11:4611600-4621400	Weak transcription	Stomach Mucosa	stomach
3	chr11:4612000-4622400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:4612400-4620800	Weak transcription	Brain Substantia Nigra	brain
5	chr11:4612400-4621400	Weak transcription	Small Intestine	intestine
6	chr11:4612600-4620800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:4612800-4621000	Weak transcription	A549	lung
8	chr11:4613000-4619600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:4613400-4619600	Weak transcription	Psoas Muscle	Psoas
10	chr11:4613600-4619600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:4613600-4621000	Weak transcription	Fetal Kidney	kidney
12	chr11:4613800-4619400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:4614000-4619800	Weak transcription	Fetal Lung	lung
14	chr11:4614200-4619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:4614200-4620000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:4614600-4620600	Weak transcription	Lung	lung
17	chr11:4614600-4621200	Weak transcription	NHDF-Ad	bronchial
18	chr11:4614600-4622200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:4614800-4621400	Weak transcription	HMEC	breast
20	chr11:4615000-4619800	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:4615000-4621200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:4615200-4619600	Weak transcription	Pancreas	Pancrea
23	chr11:4615200-4619600	Weak transcription	Thymus	Thymus
24	chr11:4615200-4620800	Weak transcription	NHLF	lung
25	chr11:4615200-4621000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:4615200-4627400	Strong transcription	Primary T cells from cord blood	blood
27	chr11:4615400-4619800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr11:4615800-4620600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:4616200-4619400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:4616200-4619800	Weak transcription	Fetal Brain Female	brain
31	chr11:4616200-4626800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:4616400-4620800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:4616800-4619800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:4616800-4620000	Weak transcription	Right Ventricle	heart
35	chr11:4617000-4619600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:4617000-4619800	Weak transcription	GM12878-XiMat	blood
37	chr11:4617000-4620000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:4617000-4620600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:4617000-4622600	Weak transcription	HUVEC	blood vessel
40	chr11:4617200-4619400	Weak transcription	Ovary	ovary
41	chr11:4617200-4619600	Weak transcription	Colonic Mucosa	Colon
42	chr11:4617200-4620200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:4617400-4619600	Weak transcription	Esophagus	oesophagus
44	chr11:4617400-4619600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:4617400-4619800	Weak transcription	Fetal Intestine Large	intestine
46	chr11:4617400-4619800	Weak transcription	Spleen	Spleen
47	chr11:4617400-4620800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:4617400-4621200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr11:4617600-4619600	Weak transcription	Dnd41	blood
50	chr11:4617800-4619400	Weak transcription	Placenta Amnion	Placenta Amnion

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