Variant report

Variant	rs72963902
Chromosome Location	chr1:97559099-97559100
allele	A/G
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	chr1:97559064-97560639	SK-N-SH	brain:	n/a	chr1:97559577-97559587 chr1:97560021-97560029
2	TCF12	chr1:97559072-97560328	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:96628387..96630261-chr1:97558478..97560909,2	MCF-7	breast:

Variant related genes	Relation type
DPYD-AS1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11165775	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11165779	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11165782	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12135974	0.91[EUR][1000 genomes]
rs17116306	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6663838	0.85[EUR][1000 genomes]
rs6667364	0.91[AFR][1000 genomes]
rs6686861	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6697058	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv530048	chr1:97457175-98031501	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007950	chr1:97466488-98021146	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv830692	chr1:97501492-97625153	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97537400-97559400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:97538000-97603600	Weak transcription	Psoas Muscle	Psoas
3	chr1:97538600-97561800	Weak transcription	Right Ventricle	heart
4	chr1:97538600-97562200	Weak transcription	Left Ventricle	heart
5	chr1:97538600-97562200	Weak transcription	Lung	lung
6	chr1:97539600-97559400	Weak transcription	Primary B cells from cord blood	blood
7	chr1:97539600-97565000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:97540000-97566800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:97540400-97575200	Weak transcription	Ovary	ovary
10	chr1:97542200-97562600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:97542400-97584800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:97542600-97560000	Weak transcription	Dnd41	blood
13	chr1:97542800-97562200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:97543000-97562600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:97545200-97559600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:97545200-97559600	Weak transcription	Adipose Nuclei	Adipose
17	chr1:97545200-97559800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:97545200-97561000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:97546200-97561400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:97549000-97562200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:97550000-97559600	Weak transcription	NHLF	lung
22	chr1:97550800-97559200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:97552600-97574600	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:97555200-97559200	Weak transcription	Liver	Liver
25	chr1:97556600-97560600	Enhancers	HUVEC	blood vessel
26	chr1:97557000-97564600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:97557200-97559600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:97557200-97559800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:97557200-97562000	Weak transcription	Primary T cells from cord blood	blood
30	chr1:97557400-97559400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:97557600-97559600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:97557600-97559600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:97557600-97563000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:97557600-97565000	Weak transcription	Brain Substantia Nigra	brain
35	chr1:97557600-97565000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:97557600-97585000	Weak transcription	Brain Angular Gyrus	brain
37	chr1:97557800-97559400	Weak transcription	Fetal Lung	lung
38	chr1:97558000-97562200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:97558000-97562600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:97558000-97563000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:97558000-97572200	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:97558200-97562600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:97558200-97569400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr1:97558400-97560200	Enhancers	Fetal Stomach	stomach
45	chr1:97558400-97564000	Weak transcription	Fetal Brain Male	brain
46	chr1:97558600-97559200	Enhancers	A549	lung
47	chr1:97558600-97559800	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:97558600-97562800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:97558600-97564600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr1:97558800-97560600	Enhancers	Hela-S3	cervix

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