Variant report

Variant	rs73240800
Chromosome Location	chr5:118414657-118414658
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118405552..118407163-chr5:118413181..118416258,3	K562	blood:

Variant related genes	Relation type
ENSG00000249494	Chromatin interaction
ENSG00000172869	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2197797	1.00[EUR][1000 genomes]
rs56777416	1.00[EUR][1000 genomes]
rs58506278	1.00[EUR][1000 genomes]
rs59560401	1.00[EUR][1000 genomes]
rs60943459	1.00[EUR][1000 genomes]
rs6881087	1.00[EUR][1000 genomes]
rs73240756	1.00[EUR][1000 genomes]
rs73240769	1.00[EUR][1000 genomes]
rs73240789	1.00[EUR][1000 genomes]
rs73240798	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73242924	1.00[EUR][1000 genomes]
rs73242936	1.00[EUR][1000 genomes]
rs73242938	1.00[EUR][1000 genomes]
rs73242944	1.00[EUR][1000 genomes]
rs73242969	1.00[EUR][1000 genomes]
rs73242972	1.00[EUR][1000 genomes]
rs73242991	1.00[EUR][1000 genomes]
rs73244806	1.00[EUR][1000 genomes]
rs73244821	1.00[EUR][1000 genomes]
rs73247063	1.00[EUR][1000 genomes]
rs7712826	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS 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	18 gene(s)	inside rSNPs	diseases
2	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3511406	chr5:118409810-118459495	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3511407	chr5:118409863-118459482	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118407600-118423600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:118407800-118421600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:118407800-118456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:118408400-118451800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:118408600-118414800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:118408800-118414800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:118409000-118414800	Weak transcription	Right Atrium	heart
8	chr5:118409000-118415600	Weak transcription	Left Ventricle	heart
9	chr5:118409000-118415800	Weak transcription	Fetal Muscle Leg	muscle
10	chr5:118409000-118420400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:118409000-118424000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:118409000-118435000	Weak transcription	Lung	lung
13	chr5:118409000-118471200	Weak transcription	Gastric	stomach
14	chr5:118409200-118415000	Weak transcription	NHDF-Ad	bronchial
15	chr5:118409200-118416000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr5:118409200-118416600	Weak transcription	Brain Angular Gyrus	brain
17	chr5:118409200-118416600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:118409200-118418000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:118409200-118419400	Weak transcription	Fetal Stomach	stomach
20	chr5:118409200-118424000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr5:118409400-118414800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:118409400-118421000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:118409400-118435000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:118409800-118414800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:118409800-118415000	Weak transcription	Ovary	ovary
26	chr5:118409800-118423200	Weak transcription	Fetal Intestine Large	intestine
27	chr5:118410200-118414800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:118410400-118419600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:118410600-118414800	Weak transcription	Hela-S3	cervix
30	chr5:118410600-118415000	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:118410600-118416000	Weak transcription	Adipose Nuclei	Adipose
32	chr5:118410600-118416400	Weak transcription	Fetal Kidney	kidney
33	chr5:118410600-118418000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:118410600-118418400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:118410800-118418400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr5:118410800-118421200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr5:118411200-118435000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:118412000-118435000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:118412200-118414800	Weak transcription	Brain Substantia Nigra	brain
40	chr5:118412200-118415600	Enhancers	Dnd41	blood
41	chr5:118412200-118416600	Weak transcription	Brain Anterior Caudate	brain
42	chr5:118412200-118432800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr5:118412400-118414800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:118412400-118424000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:118412400-118435000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:118413000-118414800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:118413000-118415800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr5:118413400-118414800	Weak transcription	Aorta	Aorta
50	chr5:118413600-118415800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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