Variant report

Variant	rs73464639
Chromosome Location	chr7:129247114-129247115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr7:129246542-129247420	HL-60	blood:	n/a	chr7:129246864-129246877 chr7:129246864-129246877
2	POLR2A	chr7:129246460-129247195	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:129246626-129247209	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr7:129243716-129247444	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr7:129244215-129249497	HepG2	liver:	n/a	n/a
6	SPI1	chr7:129246449-129247251	GM12878	blood:	n/a	chr7:129246864-129246877 chr7:129246864-129246877
7	POLR2A	chr7:129244026-129247926	K562	blood:	n/a	n/a
8	POLR2A	chr7:129244456-129248067	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr7:129244066-129247805	GM12891	blood:	n/a	n/a
10	POLR2A	chr7:129246591-129247310	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr7:129246669-129247296	A549	lung:	n/a	n/a
12	CTCF	chr7:129246712-129247961	A549	lung:	n/a	chr7:129247765-129247786 chr7:129247771-129247787 chr7:129247770-129247788
13	MTA3	chr7:129246494-129247430	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:129246816-129247706	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129149565..129151781-chr7:129245619..129248568,2	K562	blood:
2	chr7:129225250..129227766-chr7:129244638..129247298,2	MCF-7	breast:
3	chr7:129111736..129113508-chr7:129245423..129247398,2	MCF-7	breast:
4	chr7:129140962..129143945-chr7:129243314..129247330,3	MCF-7	breast:
5	chr7:129244786..129248579-chr7:129273930..129277174,4	MCF-7	breast:
6	chr7:129228492..129230780-chr7:129245998..129248645,2	K562	blood:
7	chr7:129075026..129076715-chr7:129245649..129248205,2	K562	blood:
8	chr7:129234956..129236519-chr7:129244483..129247189,2	K562	blood:
9	chr7:129237193..129242343-chr7:129243851..129248345,9	K562	blood:
10	chr7:129237193..129241667-chr7:129245468..129247836,5	K562	blood:
11	chr7:129225688..129227464-chr7:129245609..129247356,2	K562	blood:
12	chr7:129228621..129230780-chr7:129244504..129247498,2	K562	blood:
13	chr7:129166809..129169289-chr7:129245985..129248526,2	K562	blood:
14	chr7:129140689..129142785-chr7:129246762..129249920,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBE2H-2	chr7:129242678-129251482	NONHSAT123298
2	lnc-NRF1-1	chr7:129246943-129247642	NONHSAT123300
3	lnc-UBE2H-2	chr7:129244389-129251471	ENSG00000273329.1

No data

Variant related genes	Relation type
NRF1	TF binding region
ENSG00000240204	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]
rs73464641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73464643	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129233400-129247400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:129235200-129249000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:129235200-129249800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:129235200-129250200	Weak transcription	Right Atrium	heart
5	chr7:129236000-129249000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:129237000-129248800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:129237000-129249800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:129238200-129248200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:129238800-129250400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:129240200-129250400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:129241400-129247200	Weak transcription	Fetal Thymus	thymus
12	chr7:129242800-129250400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr7:129243000-129248200	Weak transcription	Fetal Kidney	kidney
14	chr7:129243800-129250200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:129244600-129248400	Weak transcription	Fetal Lung	lung
16	chr7:129244600-129249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:129244800-129247200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:129244800-129250000	Weak transcription	Fetal Brain Female	brain
19	chr7:129244800-129250400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:129245000-129248400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:129245000-129248400	Weak transcription	Ovary	ovary
22	chr7:129245000-129248400	Weak transcription	Thymus	Thymus
23	chr7:129245000-129249600	Weak transcription	NH-A	brain
24	chr7:129245000-129249800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:129245000-129250400	Weak transcription	Stomach Mucosa	stomach
26	chr7:129245200-129247200	Weak transcription	Liver	Liver
27	chr7:129245200-129249000	Weak transcription	Lung	lung
28	chr7:129245200-129249800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:129245200-129250400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:129245200-129250600	Weak transcription	Esophagus	oesophagus
31	chr7:129245400-129249000	Weak transcription	Pancreas	Pancrea
32	chr7:129245400-129250600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:129245600-129247800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:129245600-129248000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr7:129245600-129248400	Weak transcription	Brain Germinal Matrix	brain
36	chr7:129245600-129249400	Weak transcription	Spleen	Spleen
37	chr7:129245600-129250200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:129245600-129250200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:129245600-129250200	Weak transcription	HUVEC	blood vessel
40	chr7:129245600-129250600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:129245800-129247600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:129245800-129247800	Enhancers	Primary B cells from peripheral blood	blood
43	chr7:129245800-129247800	Enhancers	Primary hematopoietic stem cells	blood
44	chr7:129245800-129248000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr7:129245800-129249400	Strong transcription	A549	lung
46	chr7:129245800-129250200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr7:129245800-129250400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:129245800-129250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:129246000-129248000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:129246000-129248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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