Variant report

Variant	rs57638107
Chromosome Location	chr5:81050469-81050470
allele	C/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	TEAD4	chr5:81050368-81050839	K562	blood:	n/a	n/a
2	STAT5A	chr5:81050374-81050847	K562	blood:	n/a	chr5:81050657-81050671 chr5:81050656-81050671
3	ARID3A	chr5:81049568-81051331	K562	blood:	n/a	n/a
4	TBL1XR1	chr5:81050073-81050811	K562	blood:	n/a	n/a
5	EP300	chr5:81050443-81050839	K562	blood:	n/a	n/a
6	IRF1	chr5:81050164-81050835	K562	blood:	n/a	chr5:81050338-81050352 chr5:81050342-81050352 chr5:81050632-81050645 chr5:81050341-81050352 chr5:81050633-81050643 chr5:81050336-81050350 chr5:81050334-81050354
7	EP300	chr5:81050416-81050894	K562	blood:	n/a	n/a
8	TAL1	chr5:81050457-81050882	K562	blood:	n/a	chr5:81050671-81050689
9	MYC	chr5:81050453-81050840	K562	blood:	n/a	n/a
10	RCOR1	chr5:81050375-81050735	K562	blood:	n/a	n/a
11	STAT5A	chr5:81050434-81050852	K562	blood:	n/a	chr5:81050657-81050671 chr5:81050656-81050671
12	GATA1	chr5:81050370-81050898	PBDE	blood:	n/a	chr5:81050672-81050689
13	USF1	chr5:81050427-81050740	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:81043503..81052108-chr5:81144332..81149960,26	MCF-7	breast:
2	chr5:81047664..81050586-chr5:81054821..81057159,3	MCF-7	breast:
3	chr5:81046053..81048819-chr5:81049705..81052088,6	MCF-7	breast:
4	chr5:81044026..81052051-chr5:81142054..81153115,35	K562	blood:
5	chr5:81044752..81060050-chr5:81140268..81152732,43	K562	blood:
6	chr5:81045980..81049009-chr5:81049247..81053935,6	MCF-7	breast:

Variant related genes	Relation type
SSBP2	TF binding region
ENSG00000249483	Chromatin interaction
ENSG00000145687	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16877621	1.00[AMR][1000 genomes]
rs16898986	1.00[AMR][1000 genomes]
rs58371678	1.00[AMR][1000 genomes]
rs59749515	1.00[AMR][1000 genomes]
rs60972369	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic 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	5 gene(s)	inside rSNPs	diseases
3	nsv1028322	chr5:81020723-81419278	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv4900	chr5:81022018-81067365	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv598753	chr5:81031741-81491087	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv471018	chr5:81036805-81480371	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv1033091	chr5:81039194-81159522	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv517223	chr5:81049540-81050914	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:81047800-81051400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:81048000-81054000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:81048000-81065000	Weak transcription	Aorta	Aorta
4	chr5:81048200-81050600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:81048200-81051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:81048200-81051000	Weak transcription	Osteobl	bone
7	chr5:81048200-81051200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:81048200-81051200	Weak transcription	NH-A	brain
9	chr5:81048200-81051200	Weak transcription	NHLF	lung
10	chr5:81048200-81051400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:81048200-81051400	Weak transcription	HSMMtube	muscle
12	chr5:81048200-81053200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:81048400-81050600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:81048400-81050600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:81048400-81050600	Weak transcription	NHDF-Ad	bronchial
16	chr5:81048400-81050600	Weak transcription	NHEK	skin
17	chr5:81048400-81051000	Enhancers	A549	lung
18	chr5:81048400-81051000	Weak transcription	HUVEC	blood vessel
19	chr5:81048400-81051200	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:81048400-81051200	Weak transcription	Fetal Lung	lung
21	chr5:81048400-81051200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:81048400-81051200	Weak transcription	Stomach Mucosa	stomach
23	chr5:81048400-81051200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:81048400-81051400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:81048400-81051400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:81048400-81051600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:81048400-81051600	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:81048400-81051600	Weak transcription	Placenta	Placenta
29	chr5:81048400-81051600	Weak transcription	Psoas Muscle	Psoas
30	chr5:81048400-81052600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr5:81048400-81052800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr5:81048400-81053800	Weak transcription	Dnd41	blood
33	chr5:81048400-81055400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:81048400-81056400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:81048400-81056600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:81048400-81060200	Weak transcription	Right Atrium	heart
37	chr5:81048400-81062400	Weak transcription	Left Ventricle	heart
38	chr5:81048600-81050600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:81048600-81050600	Weak transcription	Hela-S3	cervix
40	chr5:81048600-81051000	Weak transcription	Adipose Nuclei	Adipose
41	chr5:81048600-81051200	Weak transcription	Brain Substantia Nigra	brain
42	chr5:81048600-81051200	Weak transcription	Fetal Kidney	kidney
43	chr5:81048600-81051400	Weak transcription	Brain Anterior Caudate	brain
44	chr5:81048600-81051400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr5:81048600-81053000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr5:81048600-81055400	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:81049000-81051200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:81049000-81052800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:81049000-81053200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:81049000-81053200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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