Variant report

Variant	rs60623709
Chromosome Location	chr7:86602441-86602442
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:86594474..86596908-chr7:86601076..86602886,2	MCF-7	breast:
2	chr7:86595411..86597141-chr7:86602292..86605093,2	K562	blood:
3	chr7:86597507..86599959-chr7:86601398..86603005,2	K562	blood:

Variant related genes	Relation type
ENSG00000164659	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10215436	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263372	1.00[ASN][1000 genomes]
rs10269943	1.00[ASN][1000 genomes]
rs1029367	1.00[ASN][1000 genomes]
rs12111888	1.00[ASN][1000 genomes]
rs17161067	1.00[ASN][1000 genomes]
rs17161098	1.00[ASN][1000 genomes]
rs17161118	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1999946	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1999947	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28362761	1.00[ASN][1000 genomes]
rs28405414	1.00[ASN][1000 genomes]
rs28410495	1.00[ASN][1000 genomes]
rs28479466	1.00[ASN][1000 genomes]
rs28639719	1.00[ASN][1000 genomes]
rs28755802	1.00[ASN][1000 genomes]
rs35895874	1.00[ASN][1000 genomes]
rs60438843	1.00[ASN][1000 genomes]
rs61699848	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6972489	1.00[ASN][1000 genomes]
rs73382349	1.00[ASN][1000 genomes]
rs73384105	0.83[AFR][1000 genomes]
rs73384108	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384109	0.92[EUR][1000 genomes]
rs73384111	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384112	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384113	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73384121	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781782	1.00[ASN][1000 genomes]
rs7792069	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
7	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv525634	chr7:86590353-86608786	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86589800-86605800	Weak transcription	Aorta	Aorta
2	chr7:86596400-86605000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:86596600-86605000	Weak transcription	Right Atrium	heart
4	chr7:86596600-86607400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:86596800-86611400	Weak transcription	Lung	lung
6	chr7:86598400-86602800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:86598400-86604200	Weak transcription	Brain Substantia Nigra	brain
8	chr7:86598400-86605200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:86598400-86607400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:86598600-86604200	Weak transcription	Brain Angular Gyrus	brain
11	chr7:86598600-86607800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:86599600-86607800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:86600000-86604200	Weak transcription	Brain Anterior Caudate	brain
14	chr7:86600000-86604200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:86600000-86605000	Weak transcription	Brain Hippocampus Middle	brain
16	chr7:86600600-86604200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:86601200-86602600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:86601200-86603000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:86601200-86605400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:86601400-86602600	Enhancers	Left Ventricle	heart
21	chr7:86601400-86604800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:86601400-86608200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:86601400-86609200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:86602000-86603000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:86602000-86604800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:86602200-86602600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:86602200-86604200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:86602200-86604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:86602400-86612200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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