Variant report

Variant	rs73651579
Chromosome Location	chr9:94607743-94607744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94599805..94602377-chr9:94607458..94609463,2	K562	blood:
2	chr9:94600587..94602440-chr9:94606824..94609770,3	K562	blood:
3	chr9:94602829..94605124-chr9:94607630..94609855,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10512218	0.97[ASN][1000 genomes]
rs11999739	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12002460	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12002884	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12003273	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12003585	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16907830	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16907873	0.88[AFR][1000 genomes]
rs16907877	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16907940	0.97[ASN][1000 genomes]
rs1881386	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28802998	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225147	0.97[ASN][1000 genomes]
rs59004196	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61160043	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7022887	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7031514	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7041908	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7045708	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73519115	1.00[ASN][1000 genomes]
rs73519130	0.97[ASN][1000 genomes]
rs73519140	0.97[ASN][1000 genomes]
rs73651562	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73651565	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73651566	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73651567	0.83[AFR][1000 genomes]
rs73651574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651580	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651581	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651582	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651583	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651584	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73651595	0.97[ASN][1000 genomes]
rs73651596	0.97[ASN][1000 genomes]
rs7866996	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9969713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045332	chr9:94352661-94656016	Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1047426	chr9:94363211-94758114	Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv531631	chr9:94373847-94633213	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1036176	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv540171	chr9:94500213-94639367	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv6614	chr9:94571349-94610085	ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94594600-94610800	Enhancers	Fetal Thymus	thymus
2	chr9:94601800-94618400	Weak transcription	K562	blood
3	chr9:94602800-94611200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:94602800-94611600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:94603800-94607800	Enhancers	Ovary	ovary
6	chr9:94604800-94607800	Enhancers	Fetal Lung	lung
7	chr9:94604800-94610200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:94605000-94608400	Enhancers	Fetal Stomach	stomach
9	chr9:94605600-94609600	Weak transcription	Spleen	Spleen
10	chr9:94605800-94607800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr9:94606400-94609000	Enhancers	Fetal Heart	heart
12	chr9:94606600-94607800	Enhancers	Colon Smooth Muscle	Colon
13	chr9:94606600-94609800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr9:94606600-94616600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:94606800-94607800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:94606800-94607800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr9:94606800-94607800	Enhancers	Rectal Smooth Muscle	rectum
18	chr9:94606800-94608000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:94606800-94608200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:94606800-94609200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:94606800-94609200	Weak transcription	Fetal Kidney	kidney
22	chr9:94606800-94609600	Weak transcription	Primary T cells from cord blood	blood
23	chr9:94606800-94609600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:94606800-94609800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:94606800-94609800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:94606800-94615000	Weak transcription	Right Atrium	heart
27	chr9:94606800-94619600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr9:94607000-94608200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:94607000-94608400	Weak transcription	Placenta	Placenta
30	chr9:94607000-94609600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:94607000-94609600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr9:94607000-94609800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr9:94607000-94609800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr9:94607000-94609800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:94607000-94610200	Weak transcription	Fetal Brain Male	brain
36	chr9:94607200-94608400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:94607200-94610000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:94607200-94610200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:94607200-94619600	Weak transcription	Fetal Intestine Large	intestine
40	chr9:94607400-94609600	Weak transcription	NHLF	lung
41	chr9:94607600-94607800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr9:94607600-94608400	Enhancers	Stomach Smooth Muscle	stomach
43	chr9:94607600-94608600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:94607600-94609200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:94607600-94609400	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:94607600-94609600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr9:94607600-94609800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr9:94607600-94619600	Weak transcription	Fetal Intestine Small	intestine

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