Variant report

Variant	rs60226518
Chromosome Location	chr3:140788290-140788291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140660042..140662305-chr3:140787345..140789644,2	K562	blood:
2	chr3:140785941..140788584-chr3:140792512..140794344,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114120	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11914783	1.00[EUR][1000 genomes]
rs11914819	1.00[EUR][1000 genomes]
rs11918339	1.00[EUR][1000 genomes]
rs11922466	1.00[EUR][1000 genomes]
rs59373674	1.00[EUR][1000 genomes]
rs59995199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60450739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60931350	1.00[EUR][1000 genomes]
rs6809141	1.00[EUR][1000 genomes]
rs6810078	1.00[EUR][1000 genomes]
rs72978075	1.00[EUR][1000 genomes]
rs73869545	1.00[EUR][1000 genomes]
rs7623527	1.00[EUR][1000 genomes]
rs7632283	1.00[EUR][1000 genomes]
rs7632369	1.00[EUR][1000 genomes]
rs7635077	1.00[EUR][1000 genomes]
rs7642476	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7645127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7651635	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432488	chr3:140752302-140790302	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140777400-140795000	Weak transcription	Fetal Brain Female	brain
2	chr3:140777600-140789600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:140779400-140788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:140782800-140789200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:140783600-140794200	Weak transcription	Fetal Kidney	kidney
6	chr3:140784400-140788400	Strong transcription	Dnd41	blood
7	chr3:140785400-140790000	Weak transcription	Right Ventricle	heart
8	chr3:140785800-140795000	Enhancers	Fetal Heart	heart
9	chr3:140785800-140795000	Weak transcription	Lung	lung
10	chr3:140786200-140794000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:140786400-140789600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:140786600-140789400	Weak transcription	Brain Germinal Matrix	brain
13	chr3:140786800-140789600	Weak transcription	Fetal Stomach	stomach
14	chr3:140786800-140789800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr3:140787200-140789800	Weak transcription	Fetal Lung	lung
16	chr3:140787600-140788400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:140787600-140788800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr3:140787600-140790400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:140787800-140789200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr3:140787800-140789400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:140787800-140791200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:140788000-140789000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:140788000-140789600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr3:140788000-140791400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:140788000-140793000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr3:140788200-140789000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr3:140788200-140789200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr3:140788200-140789600	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:140788200-140789800	Weak transcription	Pancreas	Pancrea
30	chr3:140788200-140791800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:140788200-140797200	Enhancers	H9 Cell Line	embryonic stem cell

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