Variant report

Variant	rs74126546
Chromosome Location	chr1:171910718-171910719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171904192..171906335-chr1:171908187..171910933,3	K562	blood:
2	chr1:171887563..171889197-chr1:171909677..171911758,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs74123804	1.00[AMR][1000 genomes]
rs74126542	1.00[AMR][1000 genomes]
rs74126543	1.00[AMR][1000 genomes]
rs74126544	1.00[AMR][1000 genomes]
rs74126545	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171900000-171916200	Weak transcription	Lung	lung
2	chr1:171904800-171913600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:171906600-171923200	Weak transcription	Fetal Kidney	kidney
4	chr1:171907000-171923000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:171907200-171917600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:171908200-171913400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:171909000-171911200	Enhancers	Brain Hippocampus Middle	brain
8	chr1:171909200-171912000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr1:171909200-171912000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:171909200-171912200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:171909200-171917200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:171909400-171911800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:171909400-171922400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:171909800-171914800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:171909800-171917600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:171909800-171923200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:171910000-171910800	Enhancers	Fetal Intestine Large	intestine
18	chr1:171910400-171910800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:171910400-171913200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:171910600-171911400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:171910600-171911800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:171910600-171912400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:171910600-171916200	Weak transcription	Stomach Mucosa	stomach

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