Variant report

Variant	rs73067721
Chromosome Location	chr5:37718860-37718861
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:37717316-37718876	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:37713205..37715908-chr5:37718081..37720863,2	K562	blood:
2	chr5:37717152..37719759-chr5:37721474..37723768,2	K562	blood:
3	chr5:37713779..37717092-chr5:37718712..37720863,3	K562	blood:
4	chr5:37700803..37702469-chr5:37717736..37720672,2	MCF-7	breast:

Variant related genes	Relation type
WDR70	TF binding region
ENSG00000082068	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16903702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16903717	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57810602	1.00[AMR][1000 genomes]
rs57947315	1.00[AMR][1000 genomes]
rs59785719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59975130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60584289	1.00[AMR][1000 genomes]
rs60971228	1.00[AMR][1000 genomes]
rs61573892	1.00[AMR][1000 genomes]
rs67885658	0.83[AFR][1000 genomes]
rs6862947	1.00[AMR][1000 genomes]
rs6898181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73061728	1.00[AMR][1000 genomes]
rs73061742	1.00[AMR][1000 genomes]
rs73061751	1.00[AMR][1000 genomes]
rs73061771	1.00[AMR][1000 genomes]
rs73061776	1.00[AMR][1000 genomes]
rs73061780	1.00[AMR][1000 genomes]
rs73063799	1.00[AMR][1000 genomes]
rs73063800	1.00[AMR][1000 genomes]
rs73065617	1.00[AMR][1000 genomes]
rs73065632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7704010	1.00[AMR][1000 genomes]
rs7724612	1.00[AMR][1000 genomes]
rs9686445	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37685200-37743200	Weak transcription	Gastric	stomach
2	chr5:37685600-37727000	Weak transcription	Lung	lung
3	chr5:37687200-37720600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:37688400-37721400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:37688400-37721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr5:37688400-37723600	Weak transcription	Placenta	Placenta
7	chr5:37689600-37726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:37692200-37721200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:37695400-37722600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:37695600-37721200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:37696800-37722800	Weak transcription	Psoas Muscle	Psoas
12	chr5:37697000-37721400	Weak transcription	Fetal Thymus	thymus
13	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:37697400-37722200	Weak transcription	HMEC	breast
15	chr5:37698800-37721000	Weak transcription	Dnd41	blood
16	chr5:37699800-37720600	Weak transcription	Adipose Nuclei	Adipose
17	chr5:37701400-37721200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:37702200-37721200	Weak transcription	GM12878-XiMat	blood
19	chr5:37702800-37723400	Weak transcription	Thymus	Thymus
20	chr5:37703600-37722800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:37703800-37721600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:37704400-37735400	Weak transcription	Brain Angular Gyrus	brain
23	chr5:37704600-37726800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:37705400-37724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:37706200-37721200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:37706600-37720000	Weak transcription	Primary B cells from cord blood	blood
27	chr5:37710200-37735400	Weak transcription	Brain Substantia Nigra	brain
28	chr5:37714000-37719400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:37714400-37725600	Enhancers	NHDF-Ad	bronchial
30	chr5:37714600-37719400	Enhancers	Fetal Stomach	stomach
31	chr5:37715000-37724600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:37716200-37722600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:37716400-37719400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr5:37716400-37734800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:37717000-37719000	Enhancers	Duodenum Mucosa	Duodenum
36	chr5:37717000-37719000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr5:37717000-37719000	Enhancers	Fetal Lung	lung
38	chr5:37717000-37719000	Enhancers	Osteobl	bone
39	chr5:37717000-37719200	Enhancers	Fetal Intestine Large	intestine
40	chr5:37717000-37719200	Enhancers	Rectal Smooth Muscle	rectum
41	chr5:37717000-37719400	Enhancers	Fetal Intestine Small	intestine
42	chr5:37717600-37721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:37717600-37722600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:37717600-37737600	Weak transcription	Small Intestine	intestine
45	chr5:37717800-37720800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:37717800-37721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr5:37717800-37724400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:37717800-37735200	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:37717800-37735200	Weak transcription	Fetal Brain Male	brain
50	chr5:37717800-37735400	Weak transcription	Brain Cingulate Gyrus	brain

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