Variant report

Variant	rs61030579
Chromosome Location	chr7:128072717-128072718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128047282..128051646-chr7:128071407..128074955,4	MCF-7	breast:
2	chr7:128070900..128073511-chr7:128092438..128094017,2	K562	blood:
3	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
4	chr7:128070428..128073149-chr7:128099474..128101225,2	K562	blood:
5	chr7:128069925..128072742-chr7:128169613..128171808,2	MCF-7	breast:
6	chr7:128070980..128072864-chr7:128528001..128529942,2	MCF-7	breast:
7	chr7:128071934..128079559-chr7:128081793..128086197,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240758	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000242588	Chromatin interaction
ENSG00000238590	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000273270	Chromatin interaction
ENSG00000273184	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2288551	0.95[EUR][1000 genomes]
rs2288552	1.00[EUR][1000 genomes]
rs2288555	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288558	0.86[ASN][1000 genomes]
rs3793166	1.00[EUR][1000 genomes]
rs56777177	0.95[EUR][1000 genomes]
rs57025636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57342587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58116488	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58306387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58346994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58432768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59521761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59959624	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60041365	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72624929	1.00[EUR][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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128070200-128074800	Enhancers	Placenta	Placenta
3	chr7:128070400-128072800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:128070600-128073200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:128071200-128074800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:128071400-128073000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:128071400-128073000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:128071600-128072800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:128071600-128072800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:128071600-128073000	Enhancers	Brain Hippocampus Middle	brain
11	chr7:128071800-128073000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:128071800-128073000	Enhancers	Brain Cingulate Gyrus	brain
13	chr7:128071800-128074400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr7:128071800-128078600	Weak transcription	Adipose Nuclei	Adipose
15	chr7:128072000-128073000	Enhancers	Brain Anterior Caudate	brain
16	chr7:128072000-128073000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:128072000-128073600	Enhancers	A549	lung
18	chr7:128072200-128074600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:128072200-128075000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:128072400-128073200	Enhancers	Esophagus	oesophagus
21	chr7:128072400-128075400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:128072600-128074800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:128072600-128075000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:128072600-128075400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:128072600-128076200	Enhancers	HepG2	liver

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