Variant report

Variant	rs72993792
Chromosome Location	chr4:174127625-174127626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11932721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942280	1.00[ASN][1000 genomes]
rs13102038	0.93[ASN][1000 genomes]
rs13117810	0.93[ASN][1000 genomes]
rs13142524	1.00[ASN][1000 genomes]
rs17059255	0.85[ASN][1000 genomes]
rs28651471	0.85[ASN][1000 genomes]
rs34627061	1.00[EUR][1000 genomes]
rs56774970	1.00[EUR][1000 genomes]
rs57130388	0.82[AMR][1000 genomes]
rs57715340	0.82[AMR][1000 genomes]
rs58146016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59098468	1.00[EUR][1000 genomes]
rs60388714	0.82[AMR][1000 genomes]
rs60699343	0.82[AMR][1000 genomes]
rs61296981	1.00[EUR][1000 genomes]
rs61445751	1.00[EUR][1000 genomes]
rs61699413	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6553687	0.85[ASN][1000 genomes]
rs6819376	0.86[EUR][1000 genomes]
rs6840087	0.85[ASN][1000 genomes]
rs72993773	1.00[EUR][1000 genomes]
rs72993775	0.82[AMR][1000 genomes]
rs72993778	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993786	0.82[AMR][1000 genomes]
rs72993793	0.82[AMR][1000 genomes]
rs72994536	1.00[EUR][1000 genomes]
rs72994576	1.00[EUR][1000 genomes]
rs72994587	1.00[EUR][1000 genomes]
rs72995605	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72995608	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72995610	0.82[AMR][1000 genomes]
rs72995612	0.82[AMR][1000 genomes]
rs72997695	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72997696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs934358	0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174104000-174157200	Weak transcription	Ovary	ovary
2	chr4:174112600-174131200	Weak transcription	Colonic Mucosa	Colon
3	chr4:174112800-174140000	Weak transcription	Aorta	Aorta
4	chr4:174113400-174132600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:174113800-174138000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:174114000-174130800	Weak transcription	Brain Substantia Nigra	brain
7	chr4:174114200-174157800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:174114600-174155000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:174116800-174135200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:174117000-174127800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:174117000-174130800	Weak transcription	Brain Angular Gyrus	brain
12	chr4:174120400-174131200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:174122000-174132600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:174122200-174130800	Weak transcription	HUVEC	blood vessel
15	chr4:174123000-174130400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:174123600-174130600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:174123600-174174200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:174123800-174129600	Weak transcription	K562	blood
19	chr4:174124000-174130600	Weak transcription	Stomach Mucosa	stomach
20	chr4:174124800-174131800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:174125600-174130400	Weak transcription	Right Ventricle	heart
22	chr4:174125600-174144800	Weak transcription	Primary B cells from cord blood	blood
23	chr4:174125800-174128200	Strong transcription	Primary T cells from cord blood	blood
24	chr4:174125800-174132400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:174125800-174132400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:174125800-174139200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:174126000-174156400	Weak transcription	Brain Anterior Caudate	brain
28	chr4:174126400-174149800	Weak transcription	Esophagus	oesophagus
29	chr4:174126600-174127800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:174126600-174130400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:174126600-174130800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr4:174126600-174131400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr4:174126600-174132200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:174126600-174132400	Weak transcription	Fetal Intestine Large	intestine
35	chr4:174126600-174132400	Weak transcription	HSMM	muscle
36	chr4:174126600-174133400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:174126600-174135400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:174126600-174135800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:174126600-174155200	Weak transcription	GM12878-XiMat	blood
40	chr4:174126600-174163400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr4:174126800-174128000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:174126800-174128400	Genic enhancers	Fetal Thymus	thymus
43	chr4:174126800-174135600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:174126800-174139000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:174127000-174128200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr4:174127000-174128200	Enhancers	Duodenum Mucosa	Duodenum
47	chr4:174127000-174128800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr4:174127000-174131000	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:174127000-174132000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr4:174127000-174139600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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