Variant report

Variant	rs55849961
Chromosome Location	chr5:74865501-74865502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74864380..74866848-chr5:75012223..75014112,2	K562	blood:
2	chr5:74863361..74865877-chr5:74866045..74867591,2	MCF-7	breast:
3	chr5:74852680..74855218-chr5:74864113..74866476,2	K562	blood:

Variant related genes	Relation type
ENSG00000152359	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1004201	0.84[ASN][1000 genomes]
rs10942740	1.00[ASN][1000 genomes]
rs11952534	1.00[ASN][1000 genomes]
rs11953883	1.00[ASN][1000 genomes]
rs1422441	1.00[ASN][1000 genomes]
rs1422442	1.00[ASN][1000 genomes]
rs16872696	1.00[ASN][1000 genomes]
rs16872701	1.00[ASN][1000 genomes]
rs16872710	1.00[ASN][1000 genomes]
rs1991450	1.00[ASN][1000 genomes]
rs2112348	1.00[ASN][1000 genomes]
rs28376795	0.82[ASN][1000 genomes]
rs28562938	0.82[ASN][1000 genomes]
rs3822587	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55817530	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55831232	1.00[ASN][1000 genomes]
rs55885461	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56348108	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56813297	0.82[ASN][1000 genomes]
rs57670471	1.00[ASN][1000 genomes]
rs6895148	1.00[ASN][1000 genomes]
rs888785	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882193	chr5:74656175-74917862	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv882194	chr5:74656175-74946455	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv882195	chr5:74678937-74896798	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv882196	chr5:74678937-74917862	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv882197	chr5:74692776-74946455	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
6	nsv882198	chr5:74736065-74896798	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv882199	chr5:74757758-74946455	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv882201	chr5:74787310-74890618	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv882202	chr5:74808417-74946455	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74818200-74897400	Weak transcription	Thymus	Thymus
2	chr5:74822800-74896000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:74831200-74877200	Weak transcription	Fetal Kidney	kidney
4	chr5:74833400-74906800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:74837600-74874400	Weak transcription	Fetal Brain Male	brain
6	chr5:74839400-74897400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:74841200-74899400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:74850000-74878000	Weak transcription	HepG2	liver
9	chr5:74850200-74896200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:74851200-74872600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:74853400-74867200	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:74853800-74869400	Weak transcription	Liver	Liver
13	chr5:74854000-74883400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:74855600-74872600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:74859600-74871000	Weak transcription	Brain Angular Gyrus	brain
16	chr5:74860800-74870400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:74861000-74871000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:74862200-74873400	Weak transcription	Fetal Brain Female	brain
19	chr5:74862200-74897800	Weak transcription	Brain Germinal Matrix	brain
20	chr5:74862600-74871000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:74862600-74887600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:74862600-74888800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr5:74862600-74897200	Weak transcription	Lung	lung
24	chr5:74862800-74867200	Weak transcription	Right Atrium	heart
25	chr5:74862800-74871000	Weak transcription	Fetal Stomach	stomach
26	chr5:74862800-74872600	Weak transcription	Placenta	Placenta
27	chr5:74862800-74874800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:74862800-74874800	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:74862800-74888600	Weak transcription	Fetal Intestine Small	intestine
30	chr5:74862800-74888800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:74862800-74897400	Weak transcription	Pancreas	Pancrea
32	chr5:74862800-74897400	Weak transcription	Spleen	Spleen
33	chr5:74862800-74897600	Weak transcription	Gastric	stomach
34	chr5:74862800-74907200	Weak transcription	Esophagus	oesophagus
35	chr5:74863000-74886400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr5:74863000-74896200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr5:74863200-74867200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr5:74863200-74872600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:74863200-74872800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:74863600-74867000	Weak transcription	Fetal Lung	lung
41	chr5:74863600-74867600	Strong transcription	Primary T cells from cord blood	blood
42	chr5:74863600-74873000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:74863600-74905800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:74863800-74869400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:74863800-74870400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr5:74863800-74872200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr5:74863800-74873200	Weak transcription	HSMMtube	muscle
48	chr5:74863800-74883800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:74863800-74906800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr5:74864000-74865600	Weak transcription	Primary B cells from peripheral blood	blood

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