Variant report

Variant	rs10246261
Chromosome Location	chr7:128302839-128302840
allele	A/G
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	POLR2A	chr7:128302691-128302845	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:128302452-128302915	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:128302781-128302868	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128297617..128300148-chr7:128302493..128306343,3	K562	blood:

Variant related genes	Relation type
ENSG00000271553	TF binding region
CICP14	TF binding region
ENSG00000271529	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1013515	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230965	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10231476	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10232401	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10243297	0.86[ASN][1000 genomes]
rs10246093	0.83[EUR][1000 genomes]
rs10251475	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10251597	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12381410	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12386692	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2402930	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28525628	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28526579	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28670000	0.83[EUR][1000 genomes]
rs28788212	0.80[ASN][1000 genomes]
rs339075	0.96[ASN][1000 genomes]
rs4642561	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6467190	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6943009	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6952963	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73463166	0.82[EUR][1000 genomes]
rs73465114	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73465147	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73465150	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73465155	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10246261	RP11-274B21.4	cis	Whole Blood	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128249600-128308400	Weak transcription	HSMM	muscle
2	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
3	chr7:128249600-128319600	Weak transcription	NHLF	lung
4	chr7:128282400-128312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:128284000-128304800	Weak transcription	Primary T cells from cord blood	blood
6	chr7:128284200-128313200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:128284400-128313200	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:128293600-128312200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:128294000-128313200	Weak transcription	Brain Germinal Matrix	brain
10	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:128295000-128304800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:128295000-128310400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:128295000-128311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:128295000-128319800	Weak transcription	Left Ventricle	heart
15	chr7:128295000-128319800	Weak transcription	Right Ventricle	heart
16	chr7:128295000-128325200	Weak transcription	Brain Hippocampus Middle	brain
17	chr7:128295400-128325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:128298600-128329200	Weak transcription	Pancreas	Pancrea
19	chr7:128300200-128313200	Weak transcription	Right Atrium	heart
20	chr7:128301800-128310600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:128302000-128304600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:128302000-128308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:128302200-128318200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:128302400-128303400	Weak transcription	Fetal Brain Female	brain
25	chr7:128302400-128312000	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:128302400-128319800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:128302400-128323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:128302400-128323200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:128302400-128324000	Weak transcription	Aorta	Aorta
30	chr7:128302400-128337200	Weak transcription	Gastric	stomach
31	chr7:128302600-128310600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:128302600-128312800	Weak transcription	Fetal Stomach	stomach
33	chr7:128302600-128323000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:128302600-128327800	Weak transcription	Placenta	Placenta
35	chr7:128302800-128303200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:128302800-128321800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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