Variant report

Variant	rs4910512
Chromosome Location	chr11:4627667-4627668
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:4625479..4627156-chr11:4627233..4629279,2	K562	blood:
2	chr11:4620058..4622735-chr11:4626222..4629091,3	K562	blood:
3	chr11:4619365..4621558-chr11:4626252..4629277,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1001697	0.88[ASN][1000 genomes]
rs1009240	0.91[GIH][hapmap]
rs10836325	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11032968	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs17314159	0.90[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs2231963	0.83[ASW][hapmap];0.81[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2231970	0.88[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3750992	0.90[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4243952	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4910511	0.86[CHB][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap]
rs4910633	0.86[CHB][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap]
rs4910635	0.86[CHB][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap]
rs4910638	0.93[ASN][1000 genomes]
rs6578501	0.89[LWK][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs7943486	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];0.85[MKK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7950390	0.86[YRI][hapmap]
rs931811	0.82[CHB][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap]
rs984496	0.86[CHB][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap]
rs999818	0.82[CHB][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.83[ASN][1000 genomes]

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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	nsv540926	chr11:4621196-4639254	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4910512	NUP98	cis	cerebellum	SCAN
rs4910512	OR52K1	cis	cerebellum	SCAN
rs4910512	C11orf21	cis	cerebellum	SCAN
rs4910512	OR51F1	cis	parietal	SCAN
rs4910512	DNHD1	cis	cerebellum	SCAN
rs4910512	STIM1	cis	parietal	SCAN
rs4910512	H19	cis	parietal	SCAN
rs4910512	SMAD7	trans	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4618000-4628000	Weak transcription	K562	blood
2	chr11:4618600-4627800	Strong transcription	Fetal Muscle Leg	muscle
3	chr11:4618600-4628400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:4619400-4628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:4620200-4628000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:4620600-4628400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:4620800-4628000	Weak transcription	NH-A	brain
8	chr11:4622600-4628000	Weak transcription	NHEK	skin
9	chr11:4622600-4628200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:4622600-4628600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:4622800-4628200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:4623000-4628400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:4623200-4627800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr11:4623200-4628000	Weak transcription	Small Intestine	intestine
15	chr11:4623400-4628200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:4623400-4628400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:4623400-4628400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:4623600-4628200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:4623800-4628000	Weak transcription	Colonic Mucosa	Colon
20	chr11:4623800-4628400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:4624200-4628000	Weak transcription	Brain Germinal Matrix	brain
22	chr11:4624200-4628600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:4624400-4627800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:4624400-4628200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:4624800-4627800	Weak transcription	Fetal Brain Female	brain
26	chr11:4624800-4628000	Weak transcription	Right Ventricle	heart
27	chr11:4625000-4628200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:4625600-4627800	Weak transcription	Fetal Thymus	thymus
29	chr11:4626000-4628200	Weak transcription	Fetal Brain Male	brain
30	chr11:4626200-4627800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:4626200-4628000	Weak transcription	HSMM	muscle
32	chr11:4626400-4628000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr11:4626400-4628200	Weak transcription	HSMMtube	muscle
34	chr11:4626400-4628400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:4626600-4627800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:4626600-4627800	Weak transcription	Spleen	Spleen
37	chr11:4626600-4627800	Weak transcription	NHLF	lung
38	chr11:4626600-4628000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr11:4626600-4628000	Weak transcription	Ovary	ovary
40	chr11:4626600-4628000	Weak transcription	Psoas Muscle	Psoas
41	chr11:4626600-4628000	Weak transcription	Thymus	Thymus
42	chr11:4626600-4628200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr11:4626600-4628200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:4626600-4628200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr11:4626600-4628200	Weak transcription	Aorta	Aorta
46	chr11:4626600-4628200	Weak transcription	Lung	lung
47	chr11:4626600-4628200	Weak transcription	Right Atrium	heart
48	chr11:4626600-4628400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:4626600-4628400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:4626600-4629000	Weak transcription	Gastric	stomach

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