Variant report

Variant	rs56411187
Chromosome Location	chr5:37150183-37150184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56244957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56356145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72736741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72736742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72736749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72736757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72736758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72736761	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72736763	1.00[AFR][1000 genomes]
rs72736765	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72736771	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72736773	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72736774	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72736778	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72736795	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
2	chr5:37105800-37156200	Weak transcription	NHLF	lung
3	chr5:37106200-37150200	Weak transcription	NHEK	skin
4	chr5:37112200-37198200	Weak transcription	Small Intestine	intestine
5	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
6	chr5:37113800-37157000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:37114600-37165400	Weak transcription	HMEC	breast
8	chr5:37118600-37153600	Weak transcription	Pancreas	Pancrea
9	chr5:37122000-37156000	Weak transcription	Brain Substantia Nigra	brain
10	chr5:37122800-37150800	Weak transcription	Fetal Heart	heart
11	chr5:37133200-37169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:37134200-37171200	Weak transcription	Colonic Mucosa	Colon
13	chr5:37136200-37197200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:37136800-37170000	Weak transcription	Esophagus	oesophagus
15	chr5:37137400-37174000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:37137600-37169000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr5:37138000-37150200	Weak transcription	Primary T cells from cord blood	blood
18	chr5:37138000-37156000	Weak transcription	Aorta	Aorta
19	chr5:37138000-37157000	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:37138400-37155200	Weak transcription	Brain Angular Gyrus	brain
21	chr5:37138400-37156800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:37138400-37196800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:37138600-37150400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:37138600-37150600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:37138600-37153400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:37138600-37179600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr5:37138800-37156800	Weak transcription	HUVEC	blood vessel
28	chr5:37139000-37150200	Weak transcription	Liver	Liver
29	chr5:37139000-37150200	Weak transcription	Brain Anterior Caudate	brain
30	chr5:37139000-37150600	Weak transcription	Primary B cells from cord blood	blood
31	chr5:37139000-37151800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:37139000-37152200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:37140000-37150200	Weak transcription	Right Ventricle	heart
34	chr5:37140000-37151800	Weak transcription	Thymus	Thymus
35	chr5:37141400-37150200	Weak transcription	Left Ventricle	heart
36	chr5:37142400-37151000	Weak transcription	NHDF-Ad	bronchial
37	chr5:37143000-37153400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:37143200-37150200	Weak transcription	HSMMtube	muscle
39	chr5:37143400-37189600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:37143600-37156000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr5:37143600-37157200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr5:37143800-37150400	Weak transcription	Fetal Kidney	kidney
43	chr5:37143800-37150600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr5:37143800-37152800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:37143800-37153400	Weak transcription	HepG2	liver
46	chr5:37143800-37169200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:37144000-37150200	Weak transcription	Ovary	ovary
48	chr5:37144000-37150600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:37144000-37152200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:37144000-37153200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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