Variant report

Variant	rs34815312
Chromosome Location	chr12:120906362-120906363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:123 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:120905975-120907098	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr12:120906309-120908074	K562	blood:	n/a	n/a
3	HCFC1	chr12:120906158-120908229	Hela-S3	cervix:	n/a	n/a
4	WRNIP1	chr12:120906150-120906937	GM12878	blood:	n/a	n/a
5	RFX5	chr12:120906360-120906651	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr12:120906106-120908533	K562	blood:	n/a	chr12:120906131-120906140
7	MTA3	chr12:120905952-120906532	GM12878	blood:	n/a	n/a
8	BHLHE40	chr12:120905974-120906616	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr12:120906055-120906730	K562	blood:	n/a	n/a
10	SPI1	chr12:120905998-120906386	GM12878	blood:	n/a	chr12:120906215-120906228
11	MXI1	chr12:120905869-120908464	SK-N-SH	brain:	n/a	n/a
12	SIN3AK20	chr12:120906024-120906693	SK-N-SH	brain:	n/a	n/a
13	RCOR1	chr12:120906145-120906476	K562	blood:	n/a	n/a
14	UBTF	chr12:120906149-120907071	K562	blood:	n/a	n/a
15	POLR2A	chr12:120905995-120906630	GM12878	blood:	n/a	n/a
16	MXI1	chr12:120906352-120906759	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr12:120906226-120906480	HepG2	liver:	n/a	n/a
18	POLR2A	chr12:120906115-120908400	K562	blood:	n/a	n/a
19	IRF1	chr12:120906094-120906536	K562	blood:	n/a	chr12:120906215-120906228
20	HEY1	chr12:120906058-120906891	K562	blood:	n/a	chr12:120906867-120906882 chr12:120906870-120906885
21	TEAD4	chr12:120906070-120906646	K562	blood:	n/a	n/a
22	ELF1	chr12:120905967-120906602	K562	blood:	n/a	n/a
23	TBP	chr12:120906249-120906558	HepG2	liver:	n/a	n/a
24	SIN3AK20	chr12:120906152-120906529	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr12:120906088-120906601	K562	blood:	n/a	n/a
26	TBL1XR1	chr12:120906247-120906621	K562	blood:	n/a	n/a
27	EP300	chr12:120906321-120906519	HepG2	liver:	n/a	n/a
28	YY1	chr12:120906194-120906481	A549	lung:	n/a	n/a
29	POLR2A	chr12:120906185-120906562	Hela-S3	cervix:	n/a	n/a
30	MXI1	chr12:120905903-120908370	IMR90	lung:	n/a	n/a
31	ARID3A	chr12:120906211-120906532	HepG2	liver:	n/a	n/a
32	RUNX3	chr12:120905952-120906755	GM12878	blood:	n/a	chr12:120906473-120906488 chr12:120906148-120906157 chr12:120906148-120906157
33	RCOR1	chr12:120906150-120906526	K562	blood:	n/a	n/a
34	CTCF	chr12:120906320-120906470	NHDF-neo	bronchial:	n/a	n/a
35	SPI1	chr12:120906089-120906385	GM12891	blood:	n/a	chr12:120906215-120906228
36	POLR2A	chr12:120906240-120906450	MCF-7	breast:	n/a	n/a
37	BHLHE40	chr12:120906361-120906439	K562	blood:	n/a	n/a
38	MYC	chr12:120906225-120906639	K562	blood:	n/a	n/a
39	YY1	chr12:120906262-120906633	K562	blood:	n/a	n/a
40	SPI1	chr12:120905953-120906396	GM12891	blood:	n/a	chr12:120906215-120906228
41	SIN3A	chr12:120906076-120908190	H1-hESC	embryonic stem cell:	n/a	chr12:120906893-120906906 chr12:120907505-120907516
42	SIN3AK20	chr12:120906124-120906540	A549	lung:	n/a	n/a
43	POLR2A	chr12:120906187-120906514	H1-neurons	neurons:	n/a	n/a
44	SP1	chr12:120906212-120906752	H1-hESC	embryonic stem cell:	n/a	chr12:120906720-120906729 chr12:120906718-120906730 chr12:120906720-120906729 chr12:120906719-120906728 chr12:120906718-120906730
45	MXI1	chr12:120906122-120906570	K562	blood:	n/a	n/a
46	POLR2A	chr12:120906105-120908566	K562	blood:	n/a	n/a
47	JUND	chr12:120906176-120906472	K562	blood:	n/a	n/a
48	SPI1	chr12:120906097-120907043	GM12878	blood:	n/a	chr12:120906215-120906228 chr12:120907014-120907027 chr12:120906634-120906643
49	CUX1	chr12:120906091-120906477	GM12878	blood:	n/a	n/a
50	REST	chr12:120906176-120908333	H1-neurons	neurons:	n/a	chr12:120907866-120907879 chr12:120906526-120906533 chr12:120906893-120906906

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120906126..120908752-chr12:120971938..120973464,2	MCF-7	breast:
2	chr12:120900995..120903574-chr12:120904583..120907524,5	MCF-7	breast:
3	chr12:120905582..120907293-chr12:121017585..121020465,2	K562	blood:
4	chr12:120881316..120885805-chr12:120906046..120909209,6	MCF-7	breast:
5	chr12:120874293..120878054-chr12:120905643..120908923,7	K562	blood:
6	chr12:120904864..120906819-chr12:120975505..120978250,2	K562	blood:
7	chr12:120727751..120732241-chr12:120903536..120914205,12	MCF-7	breast:
8	chr12:120727396..120732537-chr12:120902983..120911236,13	K562	blood:
9	chr12:120905762..120908724-chr12:120970875..120974820,5	MCF-7	breast:
10	chr12:120832590..120834451-chr12:120905005..120906685,2	MCF-7	breast:
11	chr12:120903651..120915747-chr12:120930491..120936868,24	K562	blood:
12	chr12:120873907..120875736-chr12:120904532..120906530,2	MCF-7	breast:
13	chr12:120726465..120732980-chr12:120904767..120910057,7	MCF-7	breast:
14	chr12:120875890..120877701-chr12:120905742..120908323,3	MCF-7	breast:
15	chr12:120794442..120794968-chr12:120906277..120906800,2	K562	blood:
16	chr12:120905836..120910535-chr12:120931936..120937198,12	MCF-7	breast:
17	chr12:120877548..120880154-chr12:120905733..120907532,2	MCF-7	breast:
18	chr12:120728388..120731475-chr12:120905367..120907269,3	K562	blood:
19	chr12:120905972..120909439-chr12:120965576..120970322,8	MCF-7	breast:
20	chr12:120905819..120908222-chr12:121018300..121020103,2	MCF-7	breast:
21	chr12:120899786..120915162-chr12:120926090..120939394,54	MCF-7	breast:
22	chr12:120880802..120886804-chr12:120903895..120909908,12	K562	blood:
23	chr12:120903724..120908002-chr12:120939821..120944385,4	MCF-7	breast:
24	chr12:120905117..120912400-chr12:120930505..120935641,13	K562	blood:
25	chr12:120882658..120886022-chr12:120906198..120909157,4	MCF-7	breast:
26	chr12:120905660..120907924-chr12:120965439..120968401,2	MCF-7	breast:
27	chr12:120905412..120907184-chr12:120925601..120927838,2	K562	blood:
28	chr12:120905043..120908623-chr12:120970585..120973644,4	K562	blood:

No data

Variant related genes	Relation type
DYNLL1	TF binding region
SRSF9	TF binding region
ENSG00000170855	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000248008	Chromatin interaction
ENSG00000222601	Chromatin interaction
ENSG00000111780	Chromatin interaction
ENSG00000111775	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000257218	Chromatin interaction
ENSG00000111786	Chromatin interaction
ENSG00000088986	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000110871	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12821493	1.00[ASN][1000 genomes]
rs2233673	1.00[ASN][1000 genomes]
rs35151295	1.00[ASN][1000 genomes]
rs35267083	1.00[ASN][1000 genomes]
rs3889470	1.00[ASN][1000 genomes]
rs55874815	1.00[ASN][1000 genomes]
rs56183824	1.00[ASN][1000 genomes]
rs56366632	1.00[ASN][1000 genomes]
rs73213106	1.00[ASN][1000 genomes]
rs73222778	1.00[ASN][1000 genomes]
rs73222780	1.00[ASN][1000 genomes]
rs73222784	1.00[ASN][1000 genomes]
rs73222786	1.00[ASN][1000 genomes]
rs73222794	1.00[ASN][1000 genomes]
rs73222795	1.00[ASN][1000 genomes]
rs73225003	1.00[ASN][1000 genomes]
rs73225012	1.00[ASN][1000 genomes]
rs73230347	1.00[ASN][1000 genomes]
rs73230349	1.00[ASN][1000 genomes]
rs73230352	1.00[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	esv3406081	chr12:120906094-120908942	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34815312	RNF10	Cis_1M	lymphoblastoid	RTeQTL
rs34815312	RNF10	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120904600-120906600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr12:120905400-120906400	Transcr. at gene 5' and 3'	K562	blood
3	chr12:120905600-120906400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
4	chr12:120905600-120906400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr12:120905600-120906800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:120905600-120908400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:120905600-120908600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:120905800-120906400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:120905800-120906400	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr12:120905800-120906400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr12:120905800-120906400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:120905800-120906400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
13	chr12:120905800-120906400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:120905800-120906400	Flanking Active TSS	Fetal Stomach	stomach
15	chr12:120905800-120906400	Flanking Active TSS	Thymus	Thymus
16	chr12:120905800-120906400	Flanking Active TSS	Hela-S3	cervix
17	chr12:120905800-120906400	Flanking Active TSS	HUVEC	blood vessel
18	chr12:120905800-120906400	Flanking Active TSS	NH-A	brain
19	chr12:120905800-120906400	Flanking Active TSS	Osteobl	bone
20	chr12:120905800-120906600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr12:120905800-120906600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:120905800-120906600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr12:120905800-120906600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:120905800-120906600	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr12:120905800-120906600	Flanking Active TSS	Fetal Brain Female	brain
26	chr12:120905800-120906600	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr12:120905800-120906600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr12:120905800-120906800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr12:120905800-120906800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:120905800-120907000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:120905800-120907800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:120905800-120907800	Active TSS	HMEC	breast
33	chr12:120905800-120907800	Active TSS	NHEK	skin
34	chr12:120905800-120908000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr12:120905800-120908000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr12:120905800-120908000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:120905800-120908000	Active TSS	Brain Angular Gyrus	brain
38	chr12:120905800-120908000	Active TSS	Pancreas	Pancrea
39	chr12:120905800-120908000	Active TSS	GM12878-XiMat	blood
40	chr12:120905800-120908000	Active TSS	HSMMtube	muscle
41	chr12:120905800-120908400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr12:120905800-120908400	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr12:120905800-120908400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr12:120905800-120908400	Active TSS	Psoas Muscle	Psoas
45	chr12:120905800-120908600	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr12:120905800-120908600	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:120905800-120908600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr12:120906000-120906400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:120906000-120906400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:120906000-120906400	Flanking Active TSS	Brain Anterior Caudate	brain

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