Variant report

Variant	rs4987017
Chromosome Location	chr5:42800004-42800005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6867801	1.00[AMR][1000 genomes]
rs6880730	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
9	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
10	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
11	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
14	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42778000-42800800	Weak transcription	Ovary	ovary
2	chr5:42788600-42807600	Weak transcription	Primary T cells from cord blood	blood
3	chr5:42789400-42800600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:42789400-42800800	Weak transcription	Gastric	stomach
5	chr5:42789600-42800800	Weak transcription	Pancreas	Pancrea
6	chr5:42789600-42813400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:42790800-42802200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:42791400-42800600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:42791400-42811200	Weak transcription	Fetal Thymus	thymus
10	chr5:42792000-42807600	Weak transcription	NHDF-Ad	bronchial
11	chr5:42794400-42802800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:42794600-42800800	Weak transcription	Aorta	Aorta
13	chr5:42795600-42810200	Weak transcription	Thymus	Thymus
14	chr5:42795800-42800800	Weak transcription	Fetal Stomach	stomach
15	chr5:42795800-42801000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:42797000-42800600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:42797000-42810600	Weak transcription	Esophagus	oesophagus
18	chr5:42797400-42802800	Weak transcription	GM12878-XiMat	blood
19	chr5:42797400-42810800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:42797600-42800400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:42797600-42800800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr5:42797600-42800800	Weak transcription	Brain Germinal Matrix	brain
23	chr5:42797600-42800800	Weak transcription	Fetal Kidney	kidney
24	chr5:42797600-42808200	Weak transcription	HSMM	muscle
25	chr5:42797800-42800800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:42797800-42809200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:42798000-42800800	Weak transcription	Psoas Muscle	Psoas
28	chr5:42798200-42800800	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:42798200-42800800	Weak transcription	Left Ventricle	heart
30	chr5:42798200-42808400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:42798200-42811200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:42798400-42800800	Weak transcription	Fetal Intestine Small	intestine
33	chr5:42798400-42801000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr5:42798600-42800800	Weak transcription	Lung	lung
35	chr5:42798600-42806200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:42798600-42808200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:42798800-42800600	Weak transcription	Brain Substantia Nigra	brain
38	chr5:42798800-42801000	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:42798800-42806200	Weak transcription	Brain Angular Gyrus	brain
40	chr5:42798800-42806400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:42799000-42800600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:42799000-42800800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:42799000-42800800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr5:42799000-42800800	Weak transcription	Spleen	Spleen
45	chr5:42799000-42800800	Weak transcription	HepG2	liver
46	chr5:42799000-42811600	Weak transcription	HSMMtube	muscle
47	chr5:42799200-42800800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr5:42799200-42800800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:42799200-42800800	Weak transcription	Fetal Intestine Large	intestine
50	chr5:42799200-42800800	Weak transcription	Right Ventricle	heart

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