Variant report

Variant	rs596603
Chromosome Location	chr11:67359603-67359604
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67358777..67361630-chr11:67367886..67369459,2	K562	blood:
2	chr11:67351136..67354187-chr11:67356104..67360261,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084207	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10791908	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10896185	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896186	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896190	0.85[EUR][1000 genomes]
rs11227862	0.84[EUR][1000 genomes]
rs11227866	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11603991	0.86[CEU][hapmap]
rs12421329	0.88[CEU][hapmap]
rs12790798	0.88[CEU][hapmap]
rs12793832	0.88[CEU][hapmap]
rs1531514	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1695	0.81[CEU][hapmap]
rs1871042	0.81[CEU][hapmap]
rs1871043	0.86[CEU][hapmap]
rs2126717	0.82[EUR][1000 genomes]
rs2126718	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2126719	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2187002	0.84[EUR][1000 genomes]
rs2447595	0.85[EUR][1000 genomes]
rs2447596	0.84[EUR][1000 genomes]
rs2514017	0.84[EUR][1000 genomes]
rs2514022	0.84[CEU][hapmap]
rs3765088	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4024254	0.88[CEU][hapmap]
rs4148959	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs4148960	0.84[EUR][1000 genomes]
rs4930210	0.96[CEU][hapmap]
rs56092845	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61894496	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs640777	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7103632	0.86[CEU][hapmap]
rs7130679	0.84[EUR][1000 genomes]
rs749174	0.81[CEU][hapmap]
rs7948073	0.93[CEU][hapmap];0.86[EUR][1000 genomes]
rs947895	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
4	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
6	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
7	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
8	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
10	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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 miRNA target site	81 gene(s)	inside rSNPs	diseases
13	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv897815	chr11:67347595-67408791	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
17	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
18	nsv468606	chr11:67352689-67816936	Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
19	nsv555269	chr11:67352689-67816936	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
20	nsv897816	chr11:67353579-67460529	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
21	nsv1041887	chr11:67357365-67464893	Flanking Active TSS Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
22	nsv541080	chr11:67357365-67464893	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
23	nsv529452	chr11:67358204-67465721	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
24	nsv492253	chr11:67358204-67574402	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs596603	NUDT8	cis	Heart Left Ventricle	GTEx
rs596603	NUDT8	cis	Artery Tibial	GTEx
rs596603	PTPRCAP	cis	Nerve Tibial	GTEx
rs596603	NDUFV1	cis	Thyroid	GTEx
rs596603	DOC2GP	cis	Artery Tibial	GTEx
rs596603	RP11-655M14.12	cis	Muscle Skeletal	GTEx
rs596603	RP11-655M14.13	cis	Esophagus Muscularis	GTEx
rs596603	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67352600-67359800	Weak transcription	Right Atrium	heart
2	chr11:67352600-67360200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:67354600-67359800	Weak transcription	Spleen	Spleen
4	chr11:67354600-67360400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:67354600-67360400	Weak transcription	Esophagus	oesophagus
6	chr11:67354600-67360600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:67354600-67360800	Weak transcription	Ovary	ovary
8	chr11:67354800-67360200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:67355000-67373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:67355400-67360600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr11:67355800-67359800	Weak transcription	NH-A	brain
12	chr11:67355800-67360200	Weak transcription	HUVEC	blood vessel
13	chr11:67355800-67360400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:67355800-67360400	Weak transcription	Fetal Intestine Large	intestine
15	chr11:67355800-67360800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:67355800-67363600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:67355800-67368600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:67356000-67360200	Weak transcription	HMEC	breast
19	chr11:67356000-67360200	Weak transcription	NHEK	skin
20	chr11:67356000-67360600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:67356200-67360200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:67356200-67360400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr11:67356200-67373800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:67356600-67360000	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:67356600-67360400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:67356600-67360600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:67356800-67359800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:67356800-67360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:67356800-67360400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:67356800-67360600	Weak transcription	Fetal Intestine Small	intestine
31	chr11:67356800-67362200	Weak transcription	Aorta	Aorta
32	chr11:67357000-67360200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:67357000-67360200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:67357000-67360400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:67357000-67360800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:67357000-67360800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:67357000-67361000	Weak transcription	K562	blood
38	chr11:67357000-67361400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr11:67357000-67365600	Weak transcription	Lung	lung
40	chr11:67357600-67360000	Weak transcription	Adipose Nuclei	Adipose
41	chr11:67357600-67360600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:67358800-67360400	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr11:67359200-67360200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr11:67359600-67359800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:67359600-67360000	Enhancers	Primary neutrophils fromperipheralblood	blood

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