Variant report

Variant	rs871363
Chromosome Location	chr4:8481259-8481260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr4:8480978-8481421	K562	blood:	n/a	n/a
2	ZNF384	chr4:8480820-8481339	K562	blood:	n/a	n/a
3	ATF3	chr4:8480871-8481309	K562	blood:	n/a	n/a
4	MAFK	chr4:8480826-8481415	K562	blood:	n/a	n/a
5	UBTF	chr4:8480923-8481307	K562	blood:	n/a	n/a
6	BHLHE40	chr4:8480685-8481485	K562	blood:	n/a	n/a
7	HEY1	chr4:8481027-8481322	K562	blood:	n/a	n/a
8	MAX	chr4:8480865-8481465	K562	blood:	n/a	n/a
9	E2F6	chr4:8480606-8481481	K562	blood:	n/a	n/a
10	ARID3A	chr4:8480935-8481344	K562	blood:	n/a	n/a
11	JUND	chr4:8480730-8481427	K562	blood:	n/a	n/a
12	UBTF	chr4:8480725-8481389	K562	blood:	n/a	n/a
13	CHD2	chr4:8481041-8481287	K562	blood:	n/a	n/a
14	POLR2A	chr4:8478899-8482832	K562	blood:	n/a	n/a
15	CEBPB	chr4:8480894-8481315	K562	blood:	n/a	chr4:8481098-8481109
16	MAZ	chr4:8480737-8481478	K562	blood:	n/a	n/a
17	CUX1	chr4:8480888-8481551	K562	blood:	n/a	n/a
18	EP300	chr4:8480734-8481524	K562	blood:	n/a	n/a
19	MYC	chr4:8480688-8481557	K562	blood:	n/a	n/a
20	ATF1	chr4:8480845-8481295	K562	blood:	n/a	n/a
21	TBL1XR1	chr4:8480751-8481729	K562	blood:	n/a	n/a
22	POLR2A	chr4:8481162-8481387	HepG2	liver:	n/a	n/a
23	TEAD4	chr4:8480761-8481479	K562	blood:	n/a	n/a
24	RCOR1	chr4:8480677-8481543	K562	blood:	n/a	n/a
25	MYC	chr4:8480845-8481494	K562	blood:	n/a	n/a
26	POLR2A	chr4:8481032-8481286	K562	blood:	n/a	n/a
27	STAT5A	chr4:8480840-8481293	K562	blood:	n/a	n/a
28	TEAD4	chr4:8480920-8481279	K562	blood:	n/a	n/a
29	POLR2A	chr4:8480078-8481680	K562	blood:	n/a	n/a
30	JUN	chr4:8479875-8481512	K562	blood:	n/a	n/a
31	ZMIZ1	chr4:8480889-8481408	K562	blood:	n/a	n/a
32	CEBPB	chr4:8480931-8481291	IMR90	lung:	n/a	chr4:8481098-8481109
33	CEBPB	chr4:8480875-8481311	K562	blood:	n/a	chr4:8481098-8481109
34	MYC	chr4:8480892-8481536	K562	blood:	n/a	n/a
35	MAX	chr4:8480667-8481546	K562	blood:	n/a	n/a
36	CREB1	chr4:8480937-8481388	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8473752..8477708-chr4:8479447..8482230,3	K562	blood:
2	chr4:8474636..8476895-chr4:8480359..8482946,2	K562	blood:
3	chr4:8479557..8483754-chr4:8505033..8507334,3	K562	blood:
4	chr4:8480343..8482118-chr4:8533933..8535799,2	MCF-7	breast:
5	chr4:8481028..8483192-chr4:8493835..8495709,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000205959	TF binding region
ENSG00000155275	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2177327	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2386228	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2631725	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2631738	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2631749	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.91[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2631753	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2631761	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688220	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35470507	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3338691	chr4:8479502-8482000	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs871363	TRMT44	cis	Nerve Tibial	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8447400-8482200	Strong transcription	Primary T cells from cord blood	blood
2	chr4:8465200-8482200	Strong transcription	Brain Germinal Matrix	brain
3	chr4:8467600-8482200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:8471800-8483200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:8473600-8501400	Weak transcription	Brain Substantia Nigra	brain
6	chr4:8475600-8481400	Strong transcription	Fetal Brain Female	brain
7	chr4:8475600-8491400	Weak transcription	Aorta	Aorta
8	chr4:8475800-8491800	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:8476000-8481400	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:8476200-8481800	Strong transcription	Fetal Stomach	stomach
11	chr4:8476400-8481400	Strong transcription	Right Ventricle	heart
12	chr4:8476600-8481400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:8476600-8481400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:8476600-8481400	Strong transcription	Lung	lung
15	chr4:8476600-8481800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr4:8476800-8481400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:8476800-8481600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:8477400-8481800	Strong transcription	Fetal Muscle Leg	muscle
19	chr4:8477800-8481400	Genic enhancers	Ovary	ovary
20	chr4:8477800-8482800	Weak transcription	Fetal Lung	lung
21	chr4:8478000-8481800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:8478000-8500200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:8478200-8481800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:8478200-8482000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr4:8478200-8491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:8478400-8482000	Weak transcription	Fetal Thymus	thymus
27	chr4:8478400-8482400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:8478600-8481800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:8478600-8490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:8478600-8492000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:8478800-8483800	Weak transcription	Brain Anterior Caudate	brain
32	chr4:8479000-8481400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:8479000-8482000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:8479000-8482600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:8479000-8482800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr4:8479000-8483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:8479200-8481600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:8479200-8482400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:8479200-8486200	Weak transcription	Pancreas	Pancrea
40	chr4:8479200-8488400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr4:8479200-8501400	Weak transcription	Liver	Liver
42	chr4:8479400-8481800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:8479400-8491200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:8479600-8481400	Weak transcription	Colonic Mucosa	Colon
45	chr4:8479600-8482000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:8479600-8482800	Weak transcription	Brain Angular Gyrus	brain
47	chr4:8479600-8485200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:8479600-8490800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr4:8479600-8490800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:8479800-8494600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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