Variant report

Variant	rs60290358
Chromosome Location	chr2:7132903-7132904
allele	C/T
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	EP300	chr2:7132151-7135468	SK-N-SH	brain:	n/a	chr2:7135332-7135340 chr2:7134544-7134558 chr2:7135327-7135341 chr2:7134731-7134747
2	YY1	chr2:7132793-7133866	SK-N-SH_RA	brain:	n/a	chr2:7133640-7133651 chr2:7133413-7133424
3	EP300	chr2:7132773-7133783	SK-N-SH_RA	brain:	n/a	n/a
4	GATA2	chr2:7132766-7133810	SH-SY5Y	brain:	n/a	chr2:7133576-7133586
5	RAD21	chr2:7132798-7133277	SK-N-SH_RA	brain:	n/a	n/a
6	EP300	chr2:7132823-7133786	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7130628..7133079-chr2:7138526..7140206,2	MCF-7	breast:
2	chr2:7131290..7134151-chr2:7135559..7137414,2	K562	blood:

Variant related genes	Relation type
RNF144A	TF binding region
ENSG00000151692	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16865775	0.87[AFR][1000 genomes]
rs59675031	0.86[AFR][1000 genomes]
rs73914446	1.00[AFR][1000 genomes]
rs73914448	0.87[AFR][1000 genomes]
rs73914454	1.00[AFR][1000 genomes]
rs73914472	0.86[AFR][1000 genomes]
rs73914473	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv2598	chr2:7088737-7133415	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
2	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:7109200-7137000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:7115800-7148800	Weak transcription	Esophagus	oesophagus
5	chr2:7121200-7145400	Weak transcription	Thymus	Thymus
6	chr2:7121400-7148200	Weak transcription	Fetal Intestine Small	intestine
7	chr2:7123600-7133400	Weak transcription	Fetal Stomach	stomach
8	chr2:7124000-7157600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:7126600-7147600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:7126800-7133200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:7126800-7141800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:7126800-7148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:7127200-7154000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:7127400-7133200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:7127600-7134000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:7127600-7138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:7127600-7143600	Weak transcription	HepG2	liver
18	chr2:7131000-7167600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:7131200-7133000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:7131200-7133000	Genic enhancers	Brain Anterior Caudate	brain
21	chr2:7131200-7141000	Strong transcription	Primary T cells from cord blood	blood
22	chr2:7131200-7146800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:7131400-7133400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:7131400-7135400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:7131400-7135600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:7131400-7150200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:7131400-7162400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:7131600-7133000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:7131600-7136600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:7131600-7137200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:7131600-7137200	Enhancers	Brain Substantia Nigra	brain
32	chr2:7131600-7154200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:7131600-7154200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:7131800-7135200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:7131800-7139000	Weak transcription	Fetal Thymus	thymus
36	chr2:7132000-7133000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:7132000-7133800	Enhancers	Psoas Muscle	Psoas
38	chr2:7132000-7134400	Enhancers	HUVEC	blood vessel
39	chr2:7132000-7135000	Enhancers	Right Ventricle	heart
40	chr2:7132000-7135200	Enhancers	Fetal Muscle Leg	muscle
41	chr2:7132000-7136200	Enhancers	Right Atrium	heart
42	chr2:7132200-7133200	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:7132200-7133400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:7132200-7134000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:7132200-7135000	Enhancers	Lung	lung
46	chr2:7132200-7135200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr2:7132200-7135400	Enhancers	Left Ventricle	heart
48	chr2:7132200-7135600	Enhancers	Brain Angular Gyrus	brain
49	chr2:7132200-7135800	Enhancers	Adipose Nuclei	Adipose
50	chr2:7132400-7133000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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