Variant report

Variant	rs73464643
Chromosome Location	chr7:129249581-129249582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:129248798-129252081	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr7:129249543-129249718	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:129249353-129249950	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:129249483-129249951	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr7:129249481-129249871	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:129249546-129249881	HepG2	liver:	n/a	n/a
7	JUN	chr7:129248317-129253489	K562	blood:	n/a	chr7:129253092-129253104 chr7:129249696-129249709 chr7:129253258-129253267 chr7:129249723-129249736
8	POLR2A	chr7:129248216-129249874	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128861878..128864970-chr7:129248280..129251155,3	K562	blood:
2	chr7:129247321..129249726-chr7:129464736..129466636,2	MCF-7	breast:
3	chr7:129249547..129251363-chr7:129284071..129286365,2	K562	blood:
4	chr7:129139279..129144298-chr7:129248057..129253593,12	MCF-7	breast:
5	chr7:129212889..129217763-chr7:129247804..129250930,5	K562	blood:
6	chr7:129247164..129250870-chr7:129275593..129280578,4	K562	blood:
7	chr7:128947155..128949553-chr7:129248473..129251078,2	K562	blood:
8	chr7:129208350..129211242-chr7:129248110..129249888,2	K562	blood:
9	chr7:129122920..129124600-chr7:129249511..129251392,2	MCF-7	breast:
10	chr7:129174530..129176611-chr7:129248438..129250911,2	K562	blood:
11	chr7:129131493..129133001-chr7:129248481..129251293,2	K562	blood:
12	chr7:129140689..129142785-chr7:129246762..129249920,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2H-2	chr7:129242678-129251482	NONHSAT123298
2	lnc-UBE2H-2	chr7:129244389-129251471	ENSG00000273329.1

No data

Variant related genes	Relation type
NRF1	TF binding region
ENSG00000158467	Chromatin interaction
ENSG00000240204	Chromatin interaction
ENSG00000199846	Chromatin interaction

rs_ID	r²[population]
rs73464611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73464626	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73464639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73464641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73466621	0.81[AFR][1000 genomes]
rs73466626	0.81[AFR][1000 genomes]
rs73466651	0.81[AFR][1000 genomes]
rs73466657	0.81[AFR][1000 genomes]
rs73466667	0.81[AFR][1000 genomes]
rs73470426	0.81[AFR][1000 genomes]
rs73481551	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73481552	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73481553	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129235200-129249800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:129235200-129250200	Weak transcription	Right Atrium	heart
3	chr7:129237000-129249800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:129238800-129250400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:129240200-129250400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:129242800-129250400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:129243800-129250200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:129244800-129250000	Weak transcription	Fetal Brain Female	brain
9	chr7:129244800-129250400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:129245000-129249600	Weak transcription	NH-A	brain
11	chr7:129245000-129249800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr7:129245000-129250400	Weak transcription	Stomach Mucosa	stomach
13	chr7:129245200-129249800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:129245200-129250400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:129245200-129250600	Weak transcription	Esophagus	oesophagus
16	chr7:129245400-129250600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:129245600-129250200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:129245600-129250200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:129245600-129250200	Weak transcription	HUVEC	blood vessel
20	chr7:129245600-129250600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:129245800-129250200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:129245800-129250400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:129245800-129250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:129246000-129250000	Strong transcription	HMEC	breast
25	chr7:129246000-129250400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:129246200-129249800	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:129246200-129250200	Weak transcription	Brain Anterior Caudate	brain
28	chr7:129246200-129250200	Weak transcription	NHLF	lung
29	chr7:129246200-129250400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:129246200-129250600	Weak transcription	Aorta	Aorta
31	chr7:129246200-129250600	Weak transcription	Left Ventricle	heart
32	chr7:129246400-129249600	Strong transcription	HSMM	muscle
33	chr7:129246400-129250200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:129246400-129250200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:129246400-129250400	Weak transcription	Brain Substantia Nigra	brain
36	chr7:129246600-129249600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:129246600-129249600	Strong transcription	NHEK	skin
38	chr7:129246600-129249800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:129246600-129250000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:129246600-129250000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr7:129246600-129250000	Strong transcription	Fetal Stomach	stomach
42	chr7:129246600-129250200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:129246600-129250200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:129246800-129249600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:129246800-129249600	Weak transcription	Adipose Nuclei	Adipose
46	chr7:129247000-129249600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:129247200-129250200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:129247400-129249600	Weak transcription	Primary T cells from cord blood	blood
49	chr7:129247400-129250200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr7:129247600-129249600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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