Variant report

Variant	rs72683614
Chromosome Location	chr1:78002215-78002216
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	chr1:78002207-78003070	A549	lung:	n/a	chr1:78002858-78002868
2	JUND	chr1:78002124-78003540	SK-N-SH	brain:	n/a	chr1:78002607-78002615 chr1:78002606-78002616 chr1:78002606-78002616 chr1:78002605-78002617 chr1:78002606-78002616
3	FOSL2	chr1:78002159-78003161	SK-N-SH	brain:	n/a	chr1:78002607-78002615 chr1:78002606-78002616 chr1:78002606-78002616 chr1:78002605-78002617 chr1:78002606-78002616
4	NFIC	chr1:78002037-78003143	SK-N-SH	brain:	n/a	n/a
5	JUND	chr1:78002193-78003185	HCT-116	colon:	n/a	chr1:78002607-78002615 chr1:78002606-78002616 chr1:78002606-78002616 chr1:78002605-78002617 chr1:78002606-78002616
6	JUND	chr1:78002194-78003135	SK-N-SH	brain:	n/a	chr1:78002607-78002615 chr1:78002606-78002616 chr1:78002606-78002616 chr1:78002605-78002617 chr1:78002606-78002616
7	POLR2A	chr1:78002145-78003301	U87	brain:	n/a	n/a
8	TEAD4	chr1:78002126-78003155	SK-N-SH	brain:	n/a	n/a
9	TEAD4	chr1:78002215-78003096	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr1:78002131-78003335	SK-N-SH	brain:	n/a	chr1:78002858-78002868
11	SP1	chr1:78002163-78003220	HCT-116	colon:	n/a	n/a
12	GATA3	chr1:78002153-78003406	SK-N-SH	brain:	n/a	chr1:78002858-78002868
13	TCF12	chr1:78002101-78003255	SK-N-SH	brain:	n/a	n/a
14	TCF12	chr1:78002148-78003260	SK-N-SH	brain:	n/a	n/a
15	FOSL2	chr1:78002181-78003113	A549	lung:	n/a	chr1:78002607-78002615 chr1:78002606-78002616 chr1:78002606-78002616 chr1:78002605-78002617 chr1:78002606-78002616
16	EP300	chr1:78002139-78003180	SK-N-SH	brain:	n/a	n/a
17	FOSL1	chr1:78002161-78003155	HCT-116	colon:	n/a	chr1:78002607-78002615 chr1:78002606-78002616 chr1:78002606-78002616 chr1:78002605-78002617 chr1:78002606-78002616

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78000743..78003478-chr1:78147875..78150307,2	MCF-7	breast:
2	chr1:77999652..78002822-chr1:78004325..78005902,3	K562	blood:

Variant related genes	Relation type
AK5	TF binding region
ENSG00000036549	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17381128	1.00[EUR][1000 genomes]
rs17381238	1.00[EUR][1000 genomes]
rs6657424	0.92[EUR][1000 genomes]
rs6702968	0.92[EUR][1000 genomes]
rs72683621	1.00[EUR][1000 genomes]
rs72683624	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72683632	1.00[EUR][1000 genomes]
rs72683638	1.00[EUR][1000 genomes]
rs72683639	1.00[EUR][1000 genomes]
rs72683647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683657	1.00[EUR][1000 genomes]
rs72683661	1.00[EUR][1000 genomes]
rs72683666	1.00[EUR][1000 genomes]
rs72683668	1.00[EUR][1000 genomes]
rs72683680	1.00[EUR][1000 genomes]
rs72683683	1.00[EUR][1000 genomes]
rs72683700	1.00[EUR][1000 genomes]
rs72683702	1.00[EUR][1000 genomes]
rs72685304	1.00[EUR][1000 genomes]
rs72685306	1.00[EUR][1000 genomes]
rs72685308	1.00[EUR][1000 genomes]
rs7517486	0.92[EUR][1000 genomes]
rs7546981	0.92[EUR][1000 genomes]
rs7550626	0.92[EUR][1000 genomes]
rs9661264	0.92[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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv871143	chr1:77955577-78031994	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1533	chr1:77990504-78036279	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77983000-78009200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:77998000-78014000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:77998200-78005000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:77999200-78004600	Enhancers	NH-A	brain
5	chr1:77999600-78003800	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:77999600-78004000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:77999600-78009600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:77999800-78005200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:78000000-78002600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:78000000-78003600	Weak transcription	Liver	Liver
11	chr1:78000000-78003800	Genic enhancers	NHDF-Ad	bronchial
12	chr1:78000000-78004400	Weak transcription	Fetal Kidney	kidney
13	chr1:78000000-78005000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:78000000-78011600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:78000000-78030600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr1:78000000-78031200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:78000200-78002400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:78000200-78003000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:78000200-78004600	Weak transcription	Brain Angular Gyrus	brain
20	chr1:78000200-78004600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:78000200-78004600	Weak transcription	Brain Substantia Nigra	brain
22	chr1:78000200-78005000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:78000200-78005000	Weak transcription	Brain Anterior Caudate	brain
24	chr1:78000600-78002400	Weak transcription	NHLF	lung
25	chr1:78000800-78002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:78000800-78006800	Strong transcription	Primary T cells from cord blood	blood
27	chr1:78001000-78004800	Enhancers	Hela-S3	cervix
28	chr1:78001000-78004800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr1:78001000-78005000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:78001200-78004600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:78001400-78003800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:78001400-78004000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:78001400-78004800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:78001400-78006600	Enhancers	NHEK	skin
35	chr1:78001600-78002400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:78001600-78005000	Enhancers	HSMM	muscle
37	chr1:78001600-78005800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:78001600-78006200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:78001600-78006600	Enhancers	HMEC	breast
40	chr1:78001800-78006600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:78002000-78002800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:78002000-78002800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:78002000-78003400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:78002000-78003400	Strong transcription	Brain Cingulate Gyrus	brain
45	chr1:78002000-78003600	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr1:78002000-78003600	Strong transcription	Brain Hippocampus Middle	brain
47	chr1:78002000-78003800	Enhancers	HUVEC	blood vessel
48	chr1:78002000-78004800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:78002200-78003200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:78002200-78004400	Enhancers	A549	lung

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