Variant report

Variant	rs74042848
Chromosome Location	chr13:30454787-30454788
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	chr13:30447631..30451155-chr13:30452905..30455154,3	K562	blood:
2	chr13:30423330..30425748-chr13:30454426..30456946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10492457	1.00[ASN][1000 genomes]
rs12853894	1.00[ASN][1000 genomes]
rs12864282	1.00[ASN][1000 genomes]
rs12865724	1.00[ASN][1000 genomes]
rs12866411	1.00[ASN][1000 genomes]
rs12868072	1.00[ASN][1000 genomes]
rs12872620	1.00[ASN][1000 genomes]
rs12872872	1.00[ASN][1000 genomes]
rs12877965	1.00[ASN][1000 genomes]
rs17587218	1.00[ASN][1000 genomes]
rs17587784	1.00[ASN][1000 genomes]
rs34117941	1.00[ASN][1000 genomes]
rs34148142	1.00[ASN][1000 genomes]
rs34220342	1.00[ASN][1000 genomes]
rs34492142	1.00[ASN][1000 genomes]
rs34973257	1.00[ASN][1000 genomes]
rs35227498	1.00[ASN][1000 genomes]
rs35566813	1.00[ASN][1000 genomes]
rs35569918	1.00[ASN][1000 genomes]
rs35809262	1.00[ASN][1000 genomes]
rs35820783	1.00[ASN][1000 genomes]
rs55804174	1.00[ASN][1000 genomes]
rs55966797	1.00[ASN][1000 genomes]
rs56126555	1.00[ASN][1000 genomes]
rs71427278	1.00[ASN][1000 genomes]
rs71427279	1.00[ASN][1000 genomes]
rs71427280	1.00[ASN][1000 genomes]
rs71434744	1.00[ASN][1000 genomes]
rs71434746	1.00[ASN][1000 genomes]
rs73161515	1.00[ASN][1000 genomes]
rs73161517	1.00[ASN][1000 genomes]
rs73161519	1.00[ASN][1000 genomes]
rs7320198	1.00[ASN][1000 genomes]
rs73448295	1.00[ASN][1000 genomes]
rs7986326	1.00[ASN][1000 genomes]
rs9314968	1.00[ASN][1000 genomes]
rs9578127	1.00[ASN][1000 genomes]
rs9578128	1.00[ASN][1000 genomes]
rs9578130	1.00[ASN][1000 genomes]
rs9578131	1.00[ASN][1000 genomes]
rs9578133	1.00[ASN][1000 genomes]
rs9578134	1.00[ASN][1000 genomes]
rs9579454	1.00[ASN][1000 genomes]
rs9579455	1.00[ASN][1000 genomes]
rs9579457	1.00[ASN][1000 genomes]
rs9579459	1.00[ASN][1000 genomes]
rs9579462	1.00[ASN][1000 genomes]
rs9579463	1.00[ASN][1000 genomes]
rs9579464	1.00[ASN][1000 genomes]
rs9579465	1.00[ASN][1000 genomes]
rs9579466	1.00[ASN][1000 genomes]
rs9579468	1.00[ASN][1000 genomes]
rs9579470	1.00[ASN][1000 genomes]
rs9579516	1.00[ASN][1000 genomes]
rs9579518	1.00[ASN][1000 genomes]
rs9579519	1.00[ASN][1000 genomes]
rs9579520	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr13:30449600-30458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:30450000-30457000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:30452000-30455800	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:30452200-30461400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:30452200-30468000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:30452200-30468200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr13:30452600-30455600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:30452600-30455600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr13:30452600-30458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:30452600-30458400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:30452600-30472200	Weak transcription	Ovary	ovary
12	chr13:30452800-30458200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:30452800-30458200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:30452800-30458200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr13:30453000-30454800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:30453000-30455800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr13:30453200-30458600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr13:30453400-30455400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:30453400-30455600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr13:30453600-30455400	Weak transcription	Stomach Mucosa	stomach
21	chr13:30454400-30455400	Enhancers	Fetal Intestine Small	intestine
22	chr13:30454600-30455000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr13:30454600-30455200	Enhancers	Fetal Intestine Large	intestine

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