Variant report

Variant	rs1571026
Chromosome Location	chr10:6135025-6135026
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:6134609-6135151	A549	lung:	n/a	n/a
2	CEBPB	chr10:6134819-6135034	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr10:6134729-6135046	IMR90	lung:	n/a	n/a
4	CEBPB	chr10:6134737-6135027	HepG2	liver:	n/a	n/a
5	CEBPB	chr10:6134701-6135034	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr10:6134685-6135055	A549	lung:	n/a	n/a
7	CEBPB	chr10:6134703-6135065	K562	blood:	n/a	n/a
8	CEBPB	chr10:6134704-6135037	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:6099232..6101720-chr10:6133496..6135887,2	K562	blood:
2	chr10:6132741..6135647-chr10:6244936..6248119,3	MCF-7	breast:
3	chr10:6133090..6135580-chr10:6163939..6166361,2	K562	blood:
4	chr10:6081523..6083150-chr10:6133461..6135745,2	K562	blood:
5	chr10:6130789..6132928-chr10:6134999..6139816,5	MCF-7	breast:
6	chr10:6134145..6135760-chr10:6141519..6143845,2	MCF-7	breast:

No data

Variant related genes	Relation type
RBM17	TF binding region
ENSG00000134453	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1571025	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2274356	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61839690	0.83[EUR][1000 genomes]
rs8463	1.00[ASW][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[LWK][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1040397	chr10:6129759-6158697	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1571026	RBM17	Cis_1M	lymphoblastoid	RTeQTL
rs1571026	RBM17	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6132200-6135800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:6132200-6138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:6132200-6139200	Weak transcription	Gastric	stomach
4	chr10:6132400-6135400	Enhancers	Primary B cells from cord blood	blood
5	chr10:6132400-6139000	Weak transcription	Esophagus	oesophagus
6	chr10:6132400-6139200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr10:6132400-6139200	Weak transcription	Aorta	Aorta
8	chr10:6132400-6139600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:6132600-6135200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr10:6132600-6137600	Weak transcription	HSMM	muscle
11	chr10:6132600-6138600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:6132600-6139000	Weak transcription	Colonic Mucosa	Colon
13	chr10:6132600-6139200	Weak transcription	Pancreas	Pancrea
14	chr10:6132800-6135800	Enhancers	Primary hematopoietic stem cells	blood
15	chr10:6132800-6135800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr10:6132800-6135800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr10:6132800-6137600	Weak transcription	Osteobl	bone
18	chr10:6132800-6137800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:6132800-6137800	Weak transcription	NHDF-Ad	bronchial
20	chr10:6132800-6137800	Weak transcription	NHLF	lung
21	chr10:6132800-6138000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:6132800-6138800	Weak transcription	Placenta	Placenta
23	chr10:6132800-6139200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:6132800-6139400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr10:6132800-6139600	Weak transcription	NH-A	brain
26	chr10:6132800-6143200	Weak transcription	HSMMtube	muscle
27	chr10:6132800-6145600	Weak transcription	Fetal Kidney	kidney
28	chr10:6132800-6150400	Weak transcription	Stomach Mucosa	stomach
29	chr10:6132800-6152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:6133200-6135200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr10:6133200-6137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:6133400-6135200	Weak transcription	Lung	lung
33	chr10:6133400-6135600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr10:6133400-6137000	Weak transcription	Right Ventricle	heart
35	chr10:6133400-6137200	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:6133400-6137400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:6133400-6137400	Weak transcription	Spleen	Spleen
38	chr10:6133400-6137600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:6133400-6137600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr10:6133400-6137800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr10:6133400-6138000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr10:6133400-6139000	Weak transcription	Fetal Intestine Large	intestine
43	chr10:6133400-6139200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:6133600-6135200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:6133600-6137000	Weak transcription	Fetal Stomach	stomach
46	chr10:6133600-6138200	Enhancers	Adipose Nuclei	Adipose
47	chr10:6133800-6136800	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr10:6133800-6137400	Weak transcription	Right Atrium	heart
49	chr10:6133800-6137600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr10:6133800-6137600	Weak transcription	Fetal Brain Male	brain

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