Variant report

Variant	rs62481124
Chromosome Location	chr7:128088198-128088199
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	EGR1	chr7:128088054-128088204	GM12878	blood:	n/a	chr7:128088118-128088132 chr7:128088121-128088134
2	RELA	chr7:128087971-128088284	GM12891	blood:	n/a	n/a
3	EGR1	chr7:128088001-128088201	GM12878	blood:	n/a	chr7:128088118-128088132 chr7:128088121-128088134

No.	Distal block	Cell Line	Cell type
1	chr7:128086951..128089126-chr7:128094561..128097810,4	K562	blood:
2	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
3	chr7:128084340..128085860-chr7:128086520..128088329,2	MCF-7	breast:
4	chr7:128080630..128083451-chr7:128085283..128088252,3	MCF-7	breast:

Variant related genes	Relation type
RNU7-54P	TF binding region
ENSG00000273184	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000135245	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1048531	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10954185	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11763326	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11764599	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11766743	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11769087	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11769168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771063	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11771514	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12532613	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540060	0.82[AMR][1000 genomes]
rs12540762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2288550	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2288554	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35501542	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3793164	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55706726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57124454	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57715170	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58727049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481099	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481100	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481103	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62481115	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481116	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62481123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv608401	chr7:128083454-128108776	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128075600-128093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:128075600-128093800	Weak transcription	Pancreas	Pancrea
3	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:128084000-128090000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:128084400-128088800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr7:128084600-128095800	Weak transcription	Gastric	stomach
7	chr7:128084800-128092000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:128084800-128093600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:128084800-128093800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:128086400-128095200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:128086600-128090000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:128086600-128093800	Weak transcription	Right Atrium	heart
13	chr7:128086800-128090600	Weak transcription	Left Ventricle	heart
14	chr7:128086800-128093800	Weak transcription	Brain Anterior Caudate	brain
15	chr7:128086800-128093800	Weak transcription	Right Ventricle	heart
16	chr7:128087000-128090200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:128087000-128090200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:128087000-128090200	Weak transcription	Fetal Heart	heart
19	chr7:128087000-128090200	Weak transcription	HSMMtube	muscle
20	chr7:128087000-128092000	Weak transcription	A549	lung
21	chr7:128087000-128092400	Weak transcription	K562	blood
22	chr7:128087000-128093400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:128087000-128093600	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:128088000-128088600	Enhancers	GM12878-XiMat	blood
25	chr7:128088000-128089200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:128088000-128090600	Enhancers	Adipose Nuclei	Adipose

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