Variant report

Variant	rs72746321
Chromosome Location	chr9:102695280-102695281
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	chr9:102694172..102696063-chr9:102698917..102701883,2	K562	blood:

Variant related genes	Relation type
ENSG00000136874	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10217715	1.00[AFR][1000 genomes]
rs10988947	1.00[AFR][1000 genomes]
rs13340694	0.87[ASN][1000 genomes]
rs2031034	0.87[ASN][1000 genomes]
rs34037369	0.87[ASN][1000 genomes]
rs34676979	0.87[ASN][1000 genomes]
rs34712912	0.87[ASN][1000 genomes]
rs35984438	0.87[ASN][1000 genomes]
rs4428721	0.87[ASN][1000 genomes]
rs4614054	0.87[ASN][1000 genomes]
rs56081149	1.00[AFR][1000 genomes]
rs67039781	0.87[ASN][1000 genomes]
rs67506726	0.87[ASN][1000 genomes]
rs7046365	0.87[ASN][1000 genomes]
rs72731390	1.00[AFR][1000 genomes]
rs72746326	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72746345	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73501562	0.87[ASN][1000 genomes]
rs7865257	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv831668	chr9:102568169-102747293	Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv1050510	chr9:102684318-102748658	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102669800-102729800	Weak transcription	Small Intestine	intestine
2	chr9:102671200-102719200	Weak transcription	Fetal Heart	heart
3	chr9:102680000-102710800	Weak transcription	HUVEC	blood vessel
4	chr9:102680400-102724800	Weak transcription	HSMM	muscle
5	chr9:102682600-102751400	Weak transcription	NH-A	brain
6	chr9:102684400-102720600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr9:102685000-102698200	Weak transcription	NHEK	skin
8	chr9:102685000-102710000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:102685000-102731600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr9:102685200-102730200	Weak transcription	NHLF	lung
11	chr9:102685800-102698000	Weak transcription	HMEC	breast
12	chr9:102686000-102695400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:102686000-102699400	Weak transcription	K562	blood
14	chr9:102686200-102699200	Weak transcription	Fetal Kidney	kidney
15	chr9:102686200-102699400	Weak transcription	Psoas Muscle	Psoas
16	chr9:102686200-102730000	Weak transcription	Colonic Mucosa	Colon
17	chr9:102686400-102699400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:102686400-102712800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr9:102686400-102713000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr9:102686400-102723400	Weak transcription	Colon Smooth Muscle	Colon
21	chr9:102686400-102750800	Weak transcription	Esophagus	oesophagus
22	chr9:102686600-102697200	Weak transcription	Thymus	Thymus
23	chr9:102686600-102698000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:102686600-102700200	Weak transcription	Aorta	Aorta
25	chr9:102686600-102713400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr9:102686600-102730800	Weak transcription	Ovary	ovary
27	chr9:102686600-102750800	Weak transcription	Gastric	stomach
28	chr9:102686800-102722800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:102687200-102698600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr9:102687800-102722200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr9:102688200-102698000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr9:102688200-102699400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr9:102688200-102713400	Weak transcription	Dnd41	blood
34	chr9:102688400-102710800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:102689400-102696800	Weak transcription	Fetal Muscle Leg	muscle
36	chr9:102689400-102698000	Weak transcription	Primary T cells from cord blood	blood
37	chr9:102689400-102699200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr9:102689400-102699400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr9:102689400-102699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr9:102689400-102713400	Weak transcription	Left Ventricle	heart
41	chr9:102689400-102713400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr9:102689600-102696000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:102689600-102697800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr9:102689600-102698000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr9:102689600-102698200	Weak transcription	Primary B cells from cord blood	blood
46	chr9:102689600-102698600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:102689600-102699000	Weak transcription	A549	lung
48	chr9:102689600-102699400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:102689600-102701000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:102691400-102695600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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