Variant report

Variant	rs72729974
Chromosome Location	chr4:149296915-149296916
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61762834	1.00[AMR][1000 genomes]
rs72729942	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72729952	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027263	chr4:149127120-149320135	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537296	chr4:149127120-149320135	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1016966	chr4:149209467-149341037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv530433	chr4:149277637-149669181	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv880246	chr4:149287807-149311728	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149277000-149306800	Weak transcription	Pancreas	Pancrea
2	chr4:149281200-149300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:149283000-149299000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:149288400-149297000	Weak transcription	Fetal Heart	heart
5	chr4:149289600-149297000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:149290200-149297200	Weak transcription	Aorta	Aorta
7	chr4:149291400-149297000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:149291400-149297200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:149292200-149298600	Weak transcription	Left Ventricle	heart
10	chr4:149292200-149315000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:149295200-149297000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr4:149295600-149297000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr4:149296200-149297000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr4:149296200-149298000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr4:149296400-149297000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:149296600-149297000	Enhancers	HUVEC	blood vessel
17	chr4:149296600-149297800	Enhancers	Dnd41	blood
18	chr4:149296800-149297000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr4:149296800-149297000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr4:149296800-149297000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr4:149296800-149297000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:149296800-149297000	Enhancers	Adipose Nuclei	Adipose
23	chr4:149296800-149297000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr4:149296800-149297200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr4:149296800-149297200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:149296800-149297200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr4:149296800-149297200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:149296800-149297400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:149296800-149297600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:149296800-149297600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr4:149296800-149297600	Active TSS	Psoas Muscle	Psoas
32	chr4:149296800-149297600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr4:149296800-149297800	Enhancers	Primary hematopoietic stem cells	blood
34	chr4:149296800-149297800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:149296800-149297800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:149296800-149297800	Active TSS	Right Atrium	heart
37	chr4:149296800-149297800	Enhancers	Stomach Mucosa	stomach
38	chr4:149296800-149297800	Active TSS	Stomach Smooth Muscle	stomach
39	chr4:149296800-149297800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr4:149296800-149298000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:149296800-149298000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:149296800-149298600	Enhancers	HepG2	liver
43	chr4:149296800-149299600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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