Variant report

Variant	rs73384121
Chromosome Location	chr7:86606081-86606082
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	chr7:86605895..86608403-chr7:86609300..86611305,2	K562	blood:
2	chr7:86605914..86607836-chr7:86780002..86782198,2	K562	blood:

Variant related genes	Relation type
ENSG00000135164	Chromatin interaction
ENSG00000224046	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

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	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1999946	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1999947	0.81[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]
rs60623709	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61699848	1.00[EUR][1000 genomes]
rs6972489	1.00[ASN][1000 genomes]
rs73382349	1.00[ASN][1000 genomes]
rs73384108	1.00[EUR][1000 genomes]
rs73384109	0.92[EUR][1000 genomes]
rs73384111	1.00[EUR][1000 genomes]
rs73384112	1.00[EUR][1000 genomes]
rs73384113	1.00[EUR][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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86596600-86607400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:86596800-86611400	Weak transcription	Lung	lung
3	chr7:86598400-86607400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr7:86598600-86607800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:86599600-86607800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:86601400-86608200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:86601400-86609200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:86602400-86612200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:86603200-86611200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:86604200-86606200	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:86604800-86606600	Enhancers	Fetal Heart	heart
12	chr7:86605000-86606400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:86605200-86606600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:86605400-86606200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:86605400-86607800	Weak transcription	Fetal Intestine Large	intestine
16	chr7:86605400-86608000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:86605400-86609400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:86605600-86606800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:86605600-86607800	Weak transcription	Fetal Intestine Small	intestine
20	chr7:86605600-86609000	Weak transcription	Brain Anterior Caudate	brain
21	chr7:86605600-86609800	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:86605600-86610200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:86605600-86633400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:86605800-86609400	Weak transcription	Brain Substantia Nigra	brain
25	chr7:86605800-86609800	Weak transcription	Brain Angular Gyrus	brain
26	chr7:86605800-86610800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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