Variant report

Variant	rs72850094
Chromosome Location	chr6:28552234-28552235
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:28552101-28552294	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:28551064..28553873-chr7:151215721..151217781,2	MCF-7	breast:
2	chr6:28548777..28553647-chr6:28554633..28557663,4	K562	blood:
3	chr6:28551519..28553325-chr6:28583794..28585508,2	K562	blood:
4	chr6:28550071..28553213-chr6:28554633..28557034,4	K562	blood:

Variant related genes	Relation type
ENSG00000246350	TF binding region
ENSG00000232040	Chromatin interaction
ENSG00000106615	Chromatin interaction
ENSG00000246350	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1474986	0.81[EUR][1000 genomes]
rs28382590	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382595	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382599	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382602	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382603	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382609	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382614	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28745594	0.88[EUR][1000 genomes]
rs34757087	0.88[EUR][1000 genomes]
rs34951544	0.88[EUR][1000 genomes]
rs35062161	0.88[EUR][1000 genomes]
rs35758328	0.88[EUR][1000 genomes]
rs392471	0.86[EUR][1000 genomes]
rs41270593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55920503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55965649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56043329	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56975420	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58078500	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59653352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844223	1.00[ASN][1000 genomes]
rs72844244	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72850077	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770236	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28531800-28553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:28532000-28552600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:28535000-28554000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:28536600-28553200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:28537200-28553200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:28537200-28554000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:28537400-28553800	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:28538800-28553000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:28539400-28552800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:28540000-28554000	Weak transcription	Gastric	stomach
11	chr6:28540600-28554200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:28541000-28554200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr6:28541400-28553200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:28541400-28554000	Weak transcription	Pancreas	Pancrea
15	chr6:28542200-28553200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:28542600-28553000	Weak transcription	Fetal Intestine Small	intestine
17	chr6:28543600-28552400	Weak transcription	HepG2	liver
18	chr6:28543800-28553000	Weak transcription	Fetal Kidney	kidney
19	chr6:28543800-28553200	Weak transcription	Liver	Liver
20	chr6:28544000-28553200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:28544200-28552400	Weak transcription	Brain Germinal Matrix	brain
22	chr6:28546200-28553000	Weak transcription	HMEC	breast
23	chr6:28548000-28554000	Weak transcription	Right Atrium	heart
24	chr6:28548200-28554000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:28550600-28554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:28551000-28554000	Weak transcription	Right Ventricle	heart
27	chr6:28551600-28554000	Enhancers	Fetal Lung	lung
28	chr6:28551800-28552400	Weak transcription	K562	blood
29	chr6:28551800-28552800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:28552200-28552400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:28552200-28554000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr6:28552200-28554600	Flanking Active TSS	Fetal Brain Female	brain

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