Variant report

Variant	rs10473044
Chromosome Location	chr5:37366813-37366814
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:37343556..37345615-chr5:37366480..37369895,3	K562	blood:
2	chr5:37364042..37368798-chr5:37369029..37374097,4	MCF-7	breast:
3	chr5:37365691..37367751-chr5:37369538..37372240,3	K562	blood:

Variant related genes	Relation type
ENSG00000113569	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10037598	1.00[AMR][1000 genomes]
rs10040554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10051627	1.00[AMR][1000 genomes]
rs10058009	1.00[AMR][1000 genomes]
rs10058937	1.00[AMR][1000 genomes]
rs10061784	1.00[AMR][1000 genomes]
rs10066785	1.00[AMR][1000 genomes]
rs10067668	1.00[AMR][1000 genomes]
rs10069207	1.00[AMR][1000 genomes]
rs10072490	1.00[AMR][1000 genomes]
rs10074916	1.00[AMR][1000 genomes]
rs10078655	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10452470	1.00[AMR][1000 genomes]
rs10472285	1.00[AMR][1000 genomes]
rs10473045	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10473053	1.00[AMR][1000 genomes]
rs13356183	1.00[AMR][1000 genomes]
rs13357253	1.00[AMR][1000 genomes]
rs13436037	1.00[AMR][1000 genomes]
rs28437282	1.00[AMR][1000 genomes]
rs28447153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28491140	1.00[AMR][1000 genomes]
rs28492848	1.00[AMR][1000 genomes]
rs28515785	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28764855	1.00[AMR][1000 genomes]
rs7707421	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
11	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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
12	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS 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	58 gene(s)	inside rSNPs	diseases
13	nsv597824	chr5:37206621-37409579	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	nsv597825	chr5:37206621-37430365	Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	nsv880817	chr5:37239240-37465126	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv881492	chr5:37239240-37543121	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv880444	chr5:37239240-37556926	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv1015983	chr5:37240827-37666601	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
19	nsv1021284	chr5:37264275-37630188	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv1029088	chr5:37285576-37604945	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv597844	chr5:37287836-37567851	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv881076	chr5:37294473-37479198	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv1028058	chr5:37302941-37581735	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv537728	chr5:37302941-37581735	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
25	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
26	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
27	nsv1028054	chr5:37331852-37586211	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
28	nsv537730	chr5:37331852-37586211	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
29	nsv1030797	chr5:37335832-37445040	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
30	nsv471012	chr5:37349895-37545998	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37289000-37369200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:37296400-37369000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:37307800-37368600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:37334800-37369600	Weak transcription	HSMMtube	muscle
5	chr5:37337400-37370000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:37340800-37370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:37342600-37369000	Weak transcription	Fetal Brain Male	brain
8	chr5:37342800-37369600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:37347400-37370000	Weak transcription	Aorta	Aorta
10	chr5:37347800-37369000	Weak transcription	Small Intestine	intestine
11	chr5:37348200-37369400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:37350600-37368800	Strong transcription	Fetal Stomach	stomach
13	chr5:37351400-37368600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:37351400-37368800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr5:37351600-37369200	Weak transcription	Fetal Heart	heart
16	chr5:37353600-37368600	Weak transcription	Pancreas	Pancrea
17	chr5:37354800-37369200	Weak transcription	Right Ventricle	heart
18	chr5:37357000-37368200	Weak transcription	Psoas Muscle	Psoas
19	chr5:37357000-37369000	Weak transcription	Brain Angular Gyrus	brain
20	chr5:37357000-37370000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:37357400-37369000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:37358200-37368600	Weak transcription	Gastric	stomach
23	chr5:37358200-37370200	Weak transcription	Esophagus	oesophagus
24	chr5:37358400-37369400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:37358400-37369400	Weak transcription	Brain Hippocampus Middle	brain
26	chr5:37358400-37370200	Weak transcription	Left Ventricle	heart
27	chr5:37358600-37368400	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:37358600-37369000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:37361000-37368600	Strong transcription	Thymus	Thymus
30	chr5:37362400-37368600	Weak transcription	NHLF	lung
31	chr5:37362400-37369200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:37363400-37368800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr5:37363800-37367000	Weak transcription	Fetal Intestine Small	intestine
34	chr5:37363800-37367200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:37364000-37368600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:37364000-37368800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:37364000-37369200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr5:37364000-37369400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:37364200-37368000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:37364200-37368200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:37364200-37368200	Weak transcription	Lung	lung
42	chr5:37364200-37368200	Weak transcription	Ovary	ovary
43	chr5:37364200-37368800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr5:37364200-37368800	Weak transcription	Brain Anterior Caudate	brain
45	chr5:37364200-37368800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr5:37364200-37368800	Weak transcription	Spleen	Spleen
47	chr5:37364200-37368800	Weak transcription	NHEK	skin
48	chr5:37364200-37369000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:37364200-37369000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:37364200-37369000	Weak transcription	Colonic Mucosa	Colon

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