Variant report

Variant	rs72720350
Chromosome Location	chr8:131016103-131016104
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:130950627..130952678-chr8:131014268..131017998,3	K562	blood:

Variant related genes	Relation type
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1349847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194770	1.00[AFR][1000 genomes]
rs28520393	1.00[ASN][1000 genomes]
rs55878330	1.00[ASN][1000 genomes]
rs66523355	1.00[ASN][1000 genomes]
rs7016402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718400	1.00[AFR][1000 genomes]
rs72720304	1.00[AFR][1000 genomes]
rs72720325	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72720337	1.00[ASN][1000 genomes]
rs72720345	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720360	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720361	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720362	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720365	1.00[ASN][1000 genomes]
rs7817091	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv465809	chr8:131005345-131031827	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv612233	chr8:131005345-131031827	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130996600-131017400	Weak transcription	Fetal Intestine Small	intestine
2	chr8:130998400-131017400	Weak transcription	Fetal Intestine Large	intestine
3	chr8:131006000-131016200	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr8:131008400-131020600	Weak transcription	Psoas Muscle	Psoas
5	chr8:131009000-131021800	Weak transcription	Colonic Mucosa	Colon
6	chr8:131009400-131026200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:131010000-131017400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:131010000-131020200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr8:131010000-131026800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:131010000-131027000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:131010000-131027000	Weak transcription	Small Intestine	intestine
12	chr8:131010200-131022600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:131010400-131020000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr8:131010600-131020600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr8:131010800-131016400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:131010800-131020400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:131011000-131027600	Weak transcription	Stomach Mucosa	stomach
18	chr8:131011400-131018400	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr8:131011600-131026800	Weak transcription	Brain Germinal Matrix	brain
20	chr8:131011800-131019800	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:131011800-131020800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:131012000-131017400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:131012000-131017600	Weak transcription	Right Ventricle	heart
24	chr8:131012000-131017800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:131012000-131019400	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:131012200-131017400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:131012200-131019400	Weak transcription	Placenta	Placenta
28	chr8:131012200-131026000	Weak transcription	Fetal Brain Female	brain
29	chr8:131012400-131016200	Weak transcription	Brain Angular Gyrus	brain
30	chr8:131012400-131017600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:131012400-131020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:131012400-131021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:131012400-131024600	Weak transcription	Left Ventricle	heart
34	chr8:131012400-131027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:131012400-131027000	Weak transcription	Esophagus	oesophagus
36	chr8:131012600-131017600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:131012600-131017600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:131012600-131017600	Weak transcription	Brain Substantia Nigra	brain
39	chr8:131012600-131020600	Weak transcription	Brain Anterior Caudate	brain
40	chr8:131012600-131020600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:131012600-131020600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr8:131012600-131020800	Weak transcription	Right Atrium	heart
43	chr8:131012600-131020800	Weak transcription	HSMM	muscle
44	chr8:131012600-131021000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:131012600-131021000	Weak transcription	HSMMtube	muscle
46	chr8:131012600-131021200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:131012600-131022200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:131012600-131022400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:131012600-131024800	Weak transcription	Fetal Heart	heart
50	chr8:131012600-131027200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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