Variant report

Variant	rs73478442
Chromosome Location	chr7:150433350-150433351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr7:150433075-150433363	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:150433138-150433427	H1-hESC	embryonic stem cell:	n/a	n/a
3	NANOG	chr7:150433054-150433406	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr7:150433054-150433486	H1-hESC	embryonic stem cell:	n/a	chr7:150433279-150433290
5	JUND	chr7:150432915-150433420	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr7:150432956-150433477	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:150433105-150433498	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr7:150433133-150433447	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUN	chr7:150432927-150433379	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr7:150432959-150433497	H1-hESC	embryonic stem cell:	n/a	n/a
11	RXRA	chr7:150433155-150433381	H1-hESC	embryonic stem cell:	n/a	n/a
12	SIN3AK20	chr7:150433097-150433456	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF143	chr7:150433205-150433388	H1-hESC	embryonic stem cell:	n/a	n/a
14	SP1	chr7:150433051-150433435	H1-hESC	embryonic stem cell:	n/a	chr7:150433279-150433290
15	CEBPB	chr7:150433063-150433372	H1-hESC	embryonic stem cell:	n/a	n/a
16	HDAC2	chr7:150433099-150433456	H1-hESC	embryonic stem cell:	n/a	n/a
17	NANOG	chr7:150433156-150433387	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr7:150433072-150433509	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZNF274	chr7:150433125-150433446	H1-hESC	embryonic stem cell:	n/a	n/a
20	POU5F1	chr7:150432959-150433434	H1-hESC	embryonic stem cell:	n/a	n/a
21	EGR1	chr7:150433007-150433470	H1-hESC	embryonic stem cell:	n/a	n/a
22	POU5F1	chr7:150432917-150433462	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF12	chr7:150432749-150433526	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUND	chr7:150433103-150433433	H1-hESC	embryonic stem cell:	n/a	n/a
25	EP300	chr7:150433077-150433449	H1-hESC	embryonic stem cell:	n/a	n/a
26	TCF12	chr7:150432710-150433645	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr7:150433286-150433431	LNCaP	prostate:	n/a	n/a
28	MAX	chr7:150433195-150433613	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr7:150433093-150433436	H1-hESC	embryonic stem cell:	n/a	n/a
30	MXI1	chr7:150433178-150433528	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr7:150433119-150433370	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150428030..150430773-chr7:150431433..150433417,2	K562	blood:

No data

Variant related genes	Relation type
GIMAP5	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11972223	1.00[EUR][1000 genomes]
rs11973850	1.00[EUR][1000 genomes]
rs11977022	1.00[EUR][1000 genomes]
rs11977474	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11977772	1.00[EUR][1000 genomes]
rs11981041	1.00[EUR][1000 genomes]
rs11983363	1.00[EUR][1000 genomes]
rs11983983	1.00[EUR][1000 genomes]
rs28375807	1.00[EUR][1000 genomes]
rs28651123	1.00[EUR][1000 genomes]
rs28690331	1.00[EUR][1000 genomes]
rs58281055	1.00[EUR][1000 genomes]
rs59056007	1.00[EUR][1000 genomes]
rs59483069	1.00[EUR][1000 genomes]
rs59997037	1.00[EUR][1000 genomes]
rs7788154	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7788229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7807202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7808266	1.00[EUR][1000 genomes]
rs9969122	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv831187	chr7:150325913-150503500	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150422000-150433600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr7:150429000-150434000	Enhancers	GM12878-XiMat	blood
3	chr7:150431400-150434400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr7:150431600-150433600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr7:150431800-150433800	Enhancers	Dnd41	blood
6	chr7:150431800-150434400	Enhancers	Fetal Thymus	thymus
7	chr7:150432600-150434200	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr7:150432600-150434200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:150432600-150434200	Enhancers	Thymus	Thymus
10	chr7:150432600-150435000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:150432800-150433400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:150432800-150433400	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr7:150432800-150433600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr7:150432800-150433600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr7:150432800-150433600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:150432800-150433800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:150432800-150433800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:150432800-150434200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr7:150433000-150433400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:150433000-150434800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr7:150433200-150433800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:150433200-150433800	Enhancers	Brain Germinal Matrix	brain
23	chr7:150433200-150434000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr7:150433200-150434000	Enhancers	Left Ventricle	heart
25	chr7:150433200-150434200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:150433200-150434200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr7:150433200-150434200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:150433200-150434400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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