Variant report

Variant	rs3763136
Chromosome Location	chr5:112930720-112930721
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112923262..112928429-chr5:112929075..112932971,5	K562	blood:
2	chr5:112926184..112928429-chr5:112930573..112932971,3	K562	blood:

Variant related genes	Relation type
ENSG00000047188	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10035297	0.81[EUR][1000 genomes]
rs10042141	0.81[EUR][1000 genomes]
rs10065676	0.88[ASN][1000 genomes]
rs10155616	0.81[EUR][1000 genomes]
rs10478133	0.85[ASN][1000 genomes]
rs10478134	0.85[ASN][1000 genomes]
rs11950116	0.81[EUR][1000 genomes]
rs11950577	0.81[EUR][1000 genomes]
rs11950886	0.88[ASN][1000 genomes]
rs12652864	0.83[ASN][1000 genomes]
rs12653115	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12656898	0.81[EUR][1000 genomes]
rs12659463	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13436247	0.88[ASN][1000 genomes]
rs1582487	0.81[EUR][1000 genomes]
rs2217295	0.85[ASN][1000 genomes]
rs2303718	0.88[ASN][1000 genomes]
rs28414260	0.88[ASN][1000 genomes]
rs35112652	0.87[ASN][1000 genomes]
rs36009332	0.81[EUR][1000 genomes]
rs3902149	1.00[AFR][1000 genomes]
rs4345310	0.81[EUR][1000 genomes]
rs56243065	0.87[ASN][1000 genomes]
rs56327466	0.87[ASN][1000 genomes]
rs57112456	0.91[ASN][1000 genomes]
rs58014465	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59803677	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6866028	0.81[EUR][1000 genomes]
rs9885399	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
4	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
8	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
10	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
11	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
13	chr5:112910800-112934600	Weak transcription	Gastric	stomach
14	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
15	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
16	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
17	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:112916000-112931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:112916400-112933000	Weak transcription	Thymus	Thymus
21	chr5:112916400-112933400	Weak transcription	Aorta	Aorta
22	chr5:112916800-112936000	Weak transcription	Fetal Heart	heart
23	chr5:112917200-112942000	Weak transcription	K562	blood
24	chr5:112917400-112937600	Weak transcription	HSMMtube	muscle
25	chr5:112917800-112933400	Weak transcription	Brain Angular Gyrus	brain
26	chr5:112918000-112933600	Weak transcription	Hela-S3	cervix
27	chr5:112918000-112939000	Weak transcription	NHEK	skin
28	chr5:112920400-112939000	Weak transcription	HMEC	breast
29	chr5:112920600-112934600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:112920600-112934800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:112920600-112936000	Weak transcription	Brain Anterior Caudate	brain
32	chr5:112920800-112934000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:112920800-112938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr5:112920800-112942000	Weak transcription	Ovary	ovary
35	chr5:112922000-112933400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:112923600-112933600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr5:112924600-112930800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr5:112924800-112931800	Strong transcription	Dnd41	blood
39	chr5:112924800-112933000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:112925200-112931000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr5:112925200-112932400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:112925600-112930800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr5:112926000-112930800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr5:112926200-112932600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:112926400-112932200	Weak transcription	Small Intestine	intestine
46	chr5:112926400-112933400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr5:112926600-112931800	Strong transcription	Liver	Liver
48	chr5:112926800-112931000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:112926800-112933800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:112927000-112936600	Weak transcription	Fetal Muscle Leg	muscle

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