Variant report

Variant	rs62481131
Chromosome Location	chr7:128117771-128117772
allele	A/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	MXI1	chr7:128116227-128117779	IMR90	lung:	n/a	n/a
2	MXI1	chr7:128116167-128117916	SK-N-SH	brain:	n/a	n/a
3	NFATC1	chr7:128117277-128117798	GM12878	blood:	n/a	chr7:128117586-128117599
4	NFATC1	chr7:128117326-128117788	GM12878	blood:	n/a	chr7:128117586-128117599

No.	Distal block	Cell Line	Cell type
1	chr7:128049014..128051472-chr7:128115731..128117859,3	K562	blood:
2	chr7:128094286..128097516-chr7:128115288..128118444,4	K562	blood:
3	chr7:128116092..128118343-chr7:128171049..128172892,4	K562	blood:
4	chr7:128116465..128119803-chr7:128169321..128173196,4	MCF-7	breast:

Variant related genes	Relation type
METTL2B	TF binding region
ENSG00000106348	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000273270	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000242588	Chromatin interaction
ENSG00000135245	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1048531	0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12535956	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17627068	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2288554	0.89[ASN][1000 genomes]
rs4500030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4728114	0.93[ASN][1000 genomes]
rs59027033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59665775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61310483	0.87[AMR][1000 genomes]
rs62481140	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481159	0.85[AMR][1000 genomes]
rs62483279	0.82[AMR][1000 genomes]
rs73463119	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][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	nsv966883	chr7:128107081-128142581	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62481131	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs62481131	RP11-274B21.1	cis	lung	GTEx
rs62481131	RP11-274B21.4	cis	Nerve Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128116200-128117800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:128116200-128117800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:128116200-128118000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:128116200-128118000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:128116200-128118000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:128116200-128118000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:128116200-128118000	Active TSS	Brain Germinal Matrix	brain
8	chr7:128116200-128118000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:128116200-128118200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:128116400-128117800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:128116400-128117800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr7:128116400-128117800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:128116400-128117800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:128116400-128117800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:128116400-128117800	Active TSS	Psoas Muscle	Psoas
16	chr7:128116400-128117800	Active TSS	NHLF	lung
17	chr7:128116400-128118000	Active TSS	H1 Cell Line	embryonic stem cell
18	chr7:128116400-128118000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:128116400-128118000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:128116400-128118000	Active TSS	Colonic Mucosa	Colon
21	chr7:128116400-128118000	Active TSS	Fetal Intestine Large	intestine
22	chr7:128116400-128118200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:128116600-128117800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:128116600-128117800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:128116600-128117800	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr7:128116600-128117800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:128116600-128117800	Active TSS	Fetal Intestine Small	intestine
28	chr7:128116600-128117800	Active TSS	Stomach Mucosa	stomach
29	chr7:128116600-128117800	Active TSS	A549	lung
30	chr7:128116600-128117800	Active TSS	NHDF-Ad	bronchial
31	chr7:128116600-128118000	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr7:128116600-128118000	Active TSS	Small Intestine	intestine
33	chr7:128116600-128118000	Active TSS	GM12878-XiMat	blood
34	chr7:128116600-128118000	Active TSS	HSMM	muscle
35	chr7:128116600-128118200	Active TSS	HMEC	breast
36	chr7:128116800-128118000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:128117000-128117800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr7:128117200-128117800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr7:128117200-128117800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr7:128117200-128117800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:128117200-128117800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr7:128117200-128117800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr7:128117200-128118000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:128117200-128118000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:128117200-128120600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr7:128117400-128117800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:128117400-128117800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr7:128117400-128117800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:128117400-128117800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr7:128117400-128117800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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