Variant report

Variant	rs8463
Chromosome Location	chr10:6158412-6158413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6155651..6158898-chr10:6185032..6187374,4	MCF-7	breast:
2	chr10:6149158..6152677-chr10:6155129..6159616,7	K562	blood:
3	chr10:6157094..6159629-chr10:6160136..6162344,2	MCF-7	breast:
4	chr10:6157155..6159705-chr2:70646741..70649494,2	MCF-7	breast:
5	chr10:6137633..6139244-chr10:6156311..6159157,2	K562	blood:
6	chr10:6157111..6159833-chr10:6166707..6168327,2	MCF-7	breast:
7	chr10:6157377..6159891-chr10:6179224..6181720,2	MCF-7	breast:
8	chr10:6158099..6160276-chr10:6162186..6164567,3	K562	blood:

Variant related genes	Relation type
ENSG00000134453	Chromatin interaction
ENSG00000170525	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1571025	0.87[AFR][1000 genomes]
rs1571026	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]
rs41295353	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66524564	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv1040721	chr10:6155144-6322566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv540476	chr10:6155144-6322566	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh 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	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8463	RBM17	cis	multi-tissue	Pritchard
rs8463	RBM17	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6137400-6158600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:6138000-6159400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr10:6138200-6159200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr10:6138800-6159200	Strong transcription	Placenta	Placenta
5	chr10:6138800-6159400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:6139000-6158600	Strong transcription	Fetal Intestine Large	intestine
7	chr10:6139000-6159200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:6139000-6159200	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr10:6139000-6159200	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr10:6140000-6162000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:6140400-6161000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr10:6142200-6158800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr10:6142200-6159400	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr10:6143200-6159400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr10:6145400-6158600	Strong transcription	K562	blood
16	chr10:6148000-6158800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:6148000-6159000	Strong transcription	Brain Germinal Matrix	brain
18	chr10:6149800-6158600	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:6151000-6158600	Strong transcription	NHEK	skin
20	chr10:6151000-6159200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:6151000-6159200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:6151000-6159400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr10:6151000-6159600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:6151200-6159200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr10:6151400-6159000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr10:6151400-6159000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr10:6151400-6159200	Strong transcription	Primary B cells from cord blood	blood
28	chr10:6151400-6159200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:6151400-6159200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:6151400-6159400	Strong transcription	Dnd41	blood
31	chr10:6151400-6160000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr10:6151600-6158600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr10:6151600-6158800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr10:6151600-6159200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr10:6151600-6159200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr10:6151600-6159200	Strong transcription	Primary hematopoietic stem cells	blood
37	chr10:6151600-6159200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr10:6151600-6159200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:6151600-6160000	Strong transcription	Fetal Thymus	thymus
40	chr10:6151800-6159200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr10:6151800-6159200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr10:6151800-6159200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr10:6151800-6159400	Strong transcription	Primary T cells from cord blood	blood
44	chr10:6152400-6159000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr10:6152400-6159200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr10:6152400-6159200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr10:6153000-6159200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr10:6153200-6159200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr10:6154000-6158600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr10:6154000-6159200	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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