Variant report

Variant	rs73382388
Chromosome Location	chr7:86554539-86554540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:86554451-86554843	MCF-7	breast:	n/a	chr7:86554728-86554737
2	GATA3	chr7:86554389-86554581	SH-SY5Y	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:86553017..86554703-chr7:86769615..86772464,2	K562	blood:
2	chr7:86540771..86562582-chr7:86776173..86789890,50	K562	blood:
3	chr7:86549971..86551747-chr7:86552833..86554814,2	MCF-7	breast:
4	chr7:86553928..86558459-chr7:86779633..86782031,4	MCF-7	breast:
5	chr7:86554002..86556263-chr7:86783542..86785822,2	K562	blood:
6	chr7:86547506..86550161-chr7:86552240..86556965,4	K562	blood:
7	chr7:86548433..86550044-chr7:86554057..86556965,2	K562	blood:

No data

Variant related genes	Relation type
KIAA1324L	TF binding region
ENSG00000164659	Chromatin interaction
ENSG00000224046	Chromatin interaction
ENSG00000135164	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1014634	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10215436	0.98[AFR][1000 genomes]
rs10232633	0.88[EUR][1000 genomes]
rs10236047	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10236910	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10257473	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10258008	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10267763	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10271867	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1029367	1.00[AFR][1000 genomes]
rs11974622	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11976876	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11979332	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11981220	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12111888	0.92[AFR][1000 genomes]
rs12113681	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1476455	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1557665	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17161070	0.89[EUR][1000 genomes]
rs17161096	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17161098	0.98[AFR][1000 genomes]
rs17697806	0.95[ASN][1000 genomes]
rs17697878	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17697894	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17765493	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2299231	0.88[EUR][1000 genomes]
rs2373361	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28362761	0.95[AFR][1000 genomes]
rs28405414	0.98[AFR][1000 genomes]
rs28410495	1.00[AFR][1000 genomes]
rs28490267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28583791	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28635668	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35895874	0.98[AFR][1000 genomes]
rs61082072	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6465089	0.93[AFR][1000 genomes]
rs6965029	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6972489	0.98[AFR][1000 genomes]
rs73382367	0.93[AFR][1000 genomes]
rs73382375	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73382401	0.90[EUR][1000 genomes]
rs73384105	0.90[EUR][1000 genomes]
rs7783745	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810135	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9640574	1.00[EUR][1000 genomes];0.97[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	esv1802698	chr7:86539563-86560268	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86498400-86576200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:86507400-86561400	Weak transcription	Aorta	Aorta
3	chr7:86508000-86560800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:86508000-86566800	Weak transcription	Brain Anterior Caudate	brain
5	chr7:86516000-86556400	Weak transcription	Fetal Stomach	stomach
6	chr7:86518000-86568800	Weak transcription	Psoas Muscle	Psoas
7	chr7:86518000-86577000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:86521000-86576400	Weak transcription	Hela-S3	cervix
9	chr7:86527000-86577000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:86527200-86575800	Weak transcription	Left Ventricle	heart
11	chr7:86530400-86568400	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:86531200-86568800	Weak transcription	Brain Angular Gyrus	brain
13	chr7:86539200-86578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:86539600-86568000	Weak transcription	Fetal Brain Male	brain
15	chr7:86539800-86555400	Weak transcription	Brain Germinal Matrix	brain
16	chr7:86540800-86567400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:86541600-86568800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:86543200-86568800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:86543400-86571400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:86543600-86555600	Weak transcription	K562	blood
21	chr7:86543600-86560800	Weak transcription	HUVEC	blood vessel
22	chr7:86543600-86566600	Weak transcription	Adipose Nuclei	Adipose
23	chr7:86547200-86555800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:86551000-86576200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:86552400-86556000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:86552400-86556000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:86553400-86560600	Weak transcription	Pancreas	Pancrea
28	chr7:86554000-86556000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:86554000-86556000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:86554200-86555000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:86554200-86555000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:86554200-86555600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:86554200-86556200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:86554400-86554800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:86554400-86554800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr7:86554400-86555400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:86554400-86556000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:86554400-86556000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:86554400-86556200	Strong transcription	HUES6 Cell Line	embryonic stem cell

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