Variant report

Variant	rs7074809
Chromosome Location	chr10:91148810-91148811
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:91148788-91149670	SK-N-SH	brain:	n/a	chr10:91149207-91149225 chr10:91149202-91149223
2	SMC3	chr10:91148561-91149574	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:90976747..90977329-chr10:91148741..91149345,3	MCF-7	breast:
2	chr10:91019908..91020478-chr10:91148791..91149465,2	K562	blood:
3	chr10:91019602..91020678-chr10:91148799..91149709,3	MCF-7	breast:

Variant related genes	Relation type
IFIT1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10159717	0.83[EUR][1000 genomes]
rs11203082	0.83[EUR][1000 genomes]
rs11203083	0.83[EUR][1000 genomes]
rs11203087	0.83[EUR][1000 genomes]
rs11203091	0.83[EUR][1000 genomes]
rs11203093	1.00[EUR][1000 genomes]
rs11203095	1.00[EUR][1000 genomes]
rs12243051	1.00[EUR][1000 genomes]
rs12243721	1.00[EUR][1000 genomes]
rs12243856	1.00[EUR][1000 genomes]
rs12245646	1.00[EUR][1000 genomes]
rs12250550	1.00[EUR][1000 genomes]
rs12250610	1.00[EUR][1000 genomes]
rs12251678	1.00[EUR][1000 genomes]
rs12256540	1.00[EUR][1000 genomes]
rs12259825	1.00[EUR][1000 genomes]
rs12259887	1.00[EUR][1000 genomes]
rs12263019	1.00[EUR][1000 genomes]
rs12263584	1.00[EUR][1000 genomes]
rs12267215	0.83[EUR][1000 genomes]
rs12268333	0.83[EUR][1000 genomes]
rs12269110	1.00[EUR][1000 genomes]
rs59633641	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7079179	1.00[EUR][1000 genomes]
rs7090951	1.00[EUR][1000 genomes]
rs7910157	1.00[EUR][1000 genomes]
rs7919999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91135000-91150200	Weak transcription	Fetal Brain Male	brain
2	chr10:91141000-91150000	Weak transcription	Fetal Heart	heart
3	chr10:91145400-91151000	Weak transcription	GM12878-XiMat	blood
4	chr10:91145400-91151800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr10:91145600-91151600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:91145800-91151600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr10:91146000-91151400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr10:91146200-91151400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr10:91146200-91151800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:91146200-91152400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:91146400-91150200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:91146400-91150600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:91146400-91151600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr10:91146600-91149000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr10:91146600-91152000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:91146800-91151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr10:91148000-91151600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr10:91148600-91149200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr10:91148600-91149200	Enhancers	Brain Anterior Caudate	brain
20	chr10:91148600-91151600	Weak transcription	A549	lung
21	chr10:91148800-91149200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr10:91148800-91149200	Enhancers	NHDF-Ad	bronchial

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