Variant report

Variant	rs55736801
Chromosome Location	chr5:126376224-126376225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:126367428..126369102-chr5:126374872..126376584,2	K562	blood:
2	chr5:126376205..126378561-chr5:126406110..126410141,3	MCF-7	breast:
3	chr5:126373053..126375255-chr5:126375735..126378534,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164241	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11241915	1.00[ASN][1000 genomes]
rs17165220	1.00[ASN][1000 genomes]
rs17165223	0.95[ASN][1000 genomes]
rs17839706	1.00[ASN][1000 genomes]
rs2240529	0.89[ASN][1000 genomes]
rs2240530	0.81[ASN][1000 genomes]
rs55780389	0.89[ASN][1000 genomes]
rs55807699	1.00[ASN][1000 genomes]
rs55887767	0.89[ASN][1000 genomes]
rs55926617	0.89[ASN][1000 genomes]
rs55958512	0.89[ASN][1000 genomes]
rs56102558	0.89[ASN][1000 genomes]
rs57273792	0.89[ASN][1000 genomes]
rs57394214	1.00[ASN][1000 genomes]
rs57448612	0.89[ASN][1000 genomes]
rs57496473	0.89[ASN][1000 genomes]
rs59022768	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59255338	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59584486	1.00[ASN][1000 genomes]
rs59722252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60381307	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60503756	0.86[ASN][1000 genomes]
rs61137046	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61563447	0.89[ASN][1000 genomes]
rs61563838	1.00[ASN][1000 genomes]
rs73783494	0.89[ASN][1000 genomes]
rs73783499	0.89[ASN][1000 genomes]
rs73783500	0.89[ASN][1000 genomes]
rs73783511	0.89[ASN][1000 genomes]
rs73783517	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783518	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73783519	1.00[ASN][1000 genomes]
rs73783522	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73786208	0.89[ASN][1000 genomes]
rs73786211	0.89[ASN][1000 genomes]
rs73786236	0.89[ASN][1000 genomes]
rs73786237	0.89[ASN][1000 genomes]
rs73786243	0.89[ASN][1000 genomes]
rs73786248	0.89[ASN][1000 genomes]
rs73786254	0.89[ASN][1000 genomes]
rs73786256	0.89[ASN][1000 genomes]
rs73786257	0.89[ASN][1000 genomes]
rs73786289	0.89[ASN][1000 genomes]
rs73786297	0.89[ASN][1000 genomes]
rs73786300	0.89[ASN][1000 genomes]
rs73786301	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73786302	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73787405	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73787409	0.89[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126367600-126376600	Weak transcription	Right Atrium	heart
2	chr5:126367600-126382000	Weak transcription	Primary B cells from cord blood	blood
3	chr5:126367600-126391800	Weak transcription	GM12878-XiMat	blood
4	chr5:126367800-126376600	Weak transcription	Pancreas	Pancrea
5	chr5:126368000-126376400	Weak transcription	K562	blood
6	chr5:126368000-126387200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr5:126370200-126379000	Weak transcription	Primary T cells from cord blood	blood
8	chr5:126372200-126391600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:126373400-126376400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:126374400-126376600	Weak transcription	Right Ventricle	heart
11	chr5:126374400-126385000	Weak transcription	Small Intestine	intestine
12	chr5:126374600-126376600	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:126374600-126408400	Weak transcription	Psoas Muscle	Psoas
14	chr5:126374800-126376400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:126375000-126376400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:126375600-126377400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr5:126375800-126376400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:126375800-126376600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:126375800-126376600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:126375800-126376600	Enhancers	HUVEC	blood vessel
21	chr5:126375800-126377400	Enhancers	Fetal Intestine Large	intestine
22	chr5:126375800-126377600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:126375800-126378000	Enhancers	Fetal Intestine Small	intestine
24	chr5:126375800-126378400	Enhancers	HMEC	breast
25	chr5:126376000-126376400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:126376000-126376400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:126376000-126376400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr5:126376000-126377000	Weak transcription	Colonic Mucosa	Colon
29	chr5:126376000-126377400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:126376000-126377400	Enhancers	Left Ventricle	heart
31	chr5:126376000-126378000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:126376000-126391800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:126376200-126376600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr5:126376200-126376600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr5:126376200-126376600	Enhancers	NHEK	skin
36	chr5:126376200-126376800	Weak transcription	Stomach Mucosa	stomach
37	chr5:126376200-126377400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:126376200-126377400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr5:126376200-126377800	Enhancers	Fetal Heart	heart
40	chr5:126376200-126378000	Enhancers	Lung	lung
41	chr5:126376200-126378400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:126376200-126378800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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