Variant report

Variant	rs28595532
Chromosome Location	chr4:119716950-119716951
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119715898..119718716-chr4:119755472..119757940,2	K562	blood:
2	chr4:119715812..119718716-chr4:119755325..119757940,3	K562	blood:

Variant related genes	Relation type
ENSG00000150961	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10001115	0.93[EUR][1000 genomes]
rs10018977	0.93[EUR][1000 genomes]
rs10019311	0.93[EUR][1000 genomes]
rs10025640	0.93[EUR][1000 genomes]
rs11098451	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11931194	0.84[EUR][1000 genomes]
rs11938970	0.84[EUR][1000 genomes]
rs17257945	0.95[EUR][1000 genomes]
rs17258106	0.95[EUR][1000 genomes]
rs17258830	0.93[EUR][1000 genomes]
rs17259173	0.91[EUR][1000 genomes]
rs17259284	0.93[EUR][1000 genomes]
rs17323012	0.84[EUR][1000 genomes]
rs17323034	0.84[EUR][1000 genomes]
rs17324807	0.93[EUR][1000 genomes]
rs17324821	0.93[EUR][1000 genomes]
rs17324884	0.93[EUR][1000 genomes]
rs17324968	0.93[EUR][1000 genomes]
rs17325017	0.93[EUR][1000 genomes]
rs17325129	0.93[EUR][1000 genomes]
rs17325192	0.93[EUR][1000 genomes]
rs28600971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28627331	0.95[EUR][1000 genomes]
rs28797314	0.93[EUR][1000 genomes]
rs28837152	0.93[EUR][1000 genomes]
rs41455648	1.00[EUR][1000 genomes]
rs55633605	0.93[EUR][1000 genomes]
rs55634130	0.84[EUR][1000 genomes]
rs55640619	0.93[EUR][1000 genomes]
rs55649377	0.93[EUR][1000 genomes]
rs55668908	0.93[EUR][1000 genomes]
rs55671478	0.93[EUR][1000 genomes]
rs55704595	0.93[EUR][1000 genomes]
rs55726697	0.93[EUR][1000 genomes]
rs55744948	0.93[EUR][1000 genomes]
rs55758547	0.93[EUR][1000 genomes]
rs55794497	0.93[EUR][1000 genomes]
rs55806110	0.93[EUR][1000 genomes]
rs55823625	0.93[EUR][1000 genomes]
rs55869953	0.93[EUR][1000 genomes]
rs55901549	0.93[EUR][1000 genomes]
rs55913633	0.93[EUR][1000 genomes]
rs55985953	0.93[EUR][1000 genomes]
rs56000725	0.84[EUR][1000 genomes]
rs56027489	0.93[EUR][1000 genomes]
rs56042726	0.87[EUR][1000 genomes]
rs56046449	0.93[EUR][1000 genomes]
rs56046676	0.93[EUR][1000 genomes]
rs56055826	0.82[EUR][1000 genomes]
rs56104443	0.93[EUR][1000 genomes]
rs56117870	0.89[EUR][1000 genomes]
rs56124677	0.93[EUR][1000 genomes]
rs56150431	0.93[EUR][1000 genomes]
rs56162974	0.93[EUR][1000 genomes]
rs56212415	0.93[EUR][1000 genomes]
rs56225646	0.84[EUR][1000 genomes]
rs56227053	0.93[EUR][1000 genomes]
rs56252481	0.93[EUR][1000 genomes]
rs56264833	0.89[EUR][1000 genomes]
rs56283736	0.93[EUR][1000 genomes]
rs56291421	0.93[EUR][1000 genomes]
rs56302493	0.93[EUR][1000 genomes]
rs56302600	0.93[EUR][1000 genomes]
rs56303276	0.93[EUR][1000 genomes]
rs56309519	0.93[EUR][1000 genomes]
rs56322132	0.93[EUR][1000 genomes]
rs56331118	0.93[EUR][1000 genomes]
rs56342843	0.93[EUR][1000 genomes]
rs56359736	0.93[EUR][1000 genomes]
rs56364904	0.93[EUR][1000 genomes]
rs56388366	0.93[EUR][1000 genomes]
rs56389935	0.95[EUR][1000 genomes]
rs56762141	0.93[EUR][1000 genomes]
rs6818519	0.93[EUR][1000 genomes]
rs73842212	0.84[EUR][1000 genomes]
rs73842253	0.93[EUR][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
2	chr4:119678600-119717400	Weak transcription	Esophagus	oesophagus
3	chr4:119679000-119717600	Weak transcription	Colonic Mucosa	Colon
4	chr4:119688600-119717400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:119688600-119717400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:119688600-119732600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:119689600-119717600	Weak transcription	K562	blood
8	chr4:119690000-119717600	Weak transcription	Primary T cells from cord blood	blood
9	chr4:119694000-119717400	Weak transcription	Ovary	ovary
10	chr4:119695000-119717600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:119696800-119717400	Weak transcription	Spleen	Spleen
12	chr4:119702600-119717600	Weak transcription	Fetal Brain Male	brain
13	chr4:119703400-119732200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr4:119703800-119738200	Strong transcription	Placenta	Placenta
15	chr4:119704200-119740000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:119704400-119717600	Weak transcription	Pancreas	Pancrea
17	chr4:119704600-119717600	Weak transcription	Small Intestine	intestine
18	chr4:119704800-119735200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:119705200-119717400	Weak transcription	Left Ventricle	heart
20	chr4:119705200-119717400	Weak transcription	HMEC	breast
21	chr4:119705200-119717600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:119705200-119717800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:119705200-119721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:119705200-119748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr4:119707800-119730800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:119708000-119717000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr4:119708000-119732800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:119708400-119717200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:119708400-119723000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:119708800-119722200	Strong transcription	Liver	Liver
31	chr4:119709600-119719800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:119710000-119717000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:119710000-119717400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr4:119710200-119719200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:119710600-119717200	Weak transcription	Fetal Heart	heart
36	chr4:119711000-119717600	Weak transcription	Right Ventricle	heart
37	chr4:119711400-119717600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:119711800-119717400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:119712000-119717800	Weak transcription	Stomach Mucosa	stomach
40	chr4:119712400-119723400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:119712400-119739000	Strong transcription	Fetal Muscle Leg	muscle
42	chr4:119712600-119717600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr4:119713400-119717600	Weak transcription	Gastric	stomach
44	chr4:119713600-119717400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:119713600-119724400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:119713800-119717600	Weak transcription	Brain Substantia Nigra	brain
47	chr4:119713800-119739600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr4:119714000-119718400	Strong transcription	HUVEC	blood vessel
49	chr4:119714000-119719800	Strong transcription	NH-A	brain
50	chr4:119714000-119719800	Strong transcription	Osteobl	bone

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