Variant report

Variant	rs2240530
Chromosome Location	chr5:126308660-126308661
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:126308478..126311840-chr5:126316952..126319413,3	K562	blood:
2	chr5:126305965..126309284-chr5:126320390..126324364,3	K562	blood:
3	chr5:126295165..126298889-chr5:126304910..126308773,5	K562	blood:
4	chr5:126307245..126309277-chr5:126332879..126335522,2	K562	blood:
5	chr5:126181496..126183544-chr5:126306554..126308992,2	K562	blood:
6	chr5:126307456..126309566-chr5:126343577..126345575,2	K562	blood:
7	chr5:126303677..126307322-chr5:126308047..126312316,4	K562	blood:
8	chr5:126305254..126310520-chr5:126310606..126314158,9	K562	blood:
9	chr5:126305854..126308836-chr5:126407702..126410135,3	K562	blood:
10	chr5:126307472..126309947-chr5:126340018..126342681,3	K562	blood:
11	chr5:126305965..126308847-chr5:126322511..126324364,2	K562	blood:
12	chr5:126294787..126301080-chr5:126303359..126308773,11	K562	blood:
13	chr5:126299976..126302446-chr5:126306128..126309371,3	MCF-7	breast:
14	chr5:126307421..126314242-chr5:126361622..126366824,11	K562	blood:
15	chr5:126305751..126315472-chr5:126364085..126368843,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173926	Chromatin interaction
ENSG00000164241	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11241915	0.81[ASN][1000 genomes]
rs12656223	1.00[JPT][hapmap]
rs17165220	0.81[ASN][1000 genomes]
rs17839706	0.81[ASN][1000 genomes]
rs2240529	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55736801	0.81[ASN][1000 genomes]
rs55780389	0.90[ASN][1000 genomes]
rs55807699	0.81[ASN][1000 genomes]
rs55887767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55926617	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55958512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56063325	1.00[AFR][1000 genomes]
rs56102558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56298765	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs57273792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57394214	0.81[ASN][1000 genomes]
rs57448612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57496473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57691405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58170839	1.00[AFR][1000 genomes]
rs59022768	0.81[ASN][1000 genomes]
rs59255338	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs59584486	0.81[ASN][1000 genomes]
rs59722252	0.90[ASN][1000 genomes]
rs60381307	0.81[ASN][1000 genomes]
rs60409361	1.00[AFR][1000 genomes]
rs61137046	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs61563447	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61563838	0.81[ASN][1000 genomes]
rs73783474	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73783479	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73783483	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73783485	1.00[AFR][1000 genomes]
rs73783486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73783489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73783491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73783494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73783499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73783500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73783511	0.90[ASN][1000 genomes]
rs73783517	0.81[ASN][1000 genomes]
rs73783518	0.81[ASN][1000 genomes]
rs73783519	0.81[ASN][1000 genomes]
rs73783522	0.81[ASN][1000 genomes]
rs73786208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73786211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73786236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73786237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73786243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73786248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73786254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73786256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73786257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73786289	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73786297	0.90[ASN][1000 genomes]
rs73786300	0.90[ASN][1000 genomes]
rs73786301	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73786302	0.90[ASN][1000 genomes]
rs73787405	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs73787409	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024265	chr5:126213004-126691163	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv869897	chr5:126224358-126445210	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126299800-126312000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:126301000-126308800	Weak transcription	Small Intestine	intestine
3	chr5:126302000-126312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:126304400-126310600	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:126305000-126309400	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:126305200-126309000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:126305400-126309200	Enhancers	HUVEC	blood vessel
8	chr5:126305800-126308800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:126306000-126309000	Enhancers	HSMM	muscle
10	chr5:126306200-126309000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:126306200-126309400	Enhancers	Brain Substantia Nigra	brain
12	chr5:126306400-126309200	Enhancers	Brain Hippocampus Middle	brain
13	chr5:126306400-126317800	Weak transcription	Ovary	ovary
14	chr5:126306600-126317800	Weak transcription	Aorta	Aorta
15	chr5:126306800-126309600	Enhancers	Fetal Heart	heart
16	chr5:126307000-126309400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:126307200-126309200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:126307200-126309200	Enhancers	Right Atrium	heart
19	chr5:126307200-126309400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr5:126307400-126308800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:126307400-126309000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:126307400-126309000	Enhancers	Fetal Intestine Small	intestine
23	chr5:126307400-126309200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:126307400-126309200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr5:126307400-126309200	Flanking Active TSS	GM12878-XiMat	blood
26	chr5:126307400-126309400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:126307400-126309400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr5:126307400-126309400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr5:126307400-126309400	Enhancers	Fetal Intestine Large	intestine
30	chr5:126307400-126309400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:126307400-126309400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:126307400-126309400	Enhancers	HepG2	liver
33	chr5:126307400-126311600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:126307400-126312200	Weak transcription	Psoas Muscle	Psoas
35	chr5:126307400-126316800	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:126307400-126317800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:126307800-126309200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr5:126307800-126309200	Enhancers	Colonic Mucosa	Colon
39	chr5:126307800-126309200	Enhancers	Dnd41	blood
40	chr5:126308000-126308800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:126308000-126309200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:126308000-126309400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:126308000-126309400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr5:126308000-126309400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr5:126308000-126309400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:126308000-126309400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:126308000-126309400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr5:126308200-126309000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:126308200-126309000	Enhancers	Liver	Liver
50	chr5:126308200-126309400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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