Variant report

Variant	rs12001812
Chromosome Location	chr9:94982891-94982892
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:94982687..94985411-chr9:95009602..95012209,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1175930	0.89[AFR][1000 genomes]
rs12002188	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12004004	1.00[AMR][1000 genomes]
rs472163	0.89[AFR][1000 genomes]
rs4743867	0.89[AFR][1000 genomes]
rs7046734	1.00[AMR][1000 genomes]
rs9409464	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94970800-94983400	Weak transcription	Stomach Mucosa	stomach
2	chr9:94973800-94983200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:94973800-94990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:94974000-94983200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:94974000-94983400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:94974000-94999000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:94974400-94983400	Weak transcription	Fetal Brain Male	brain
8	chr9:94974800-94983000	Weak transcription	Colon Smooth Muscle	Colon
9	chr9:94975200-94983200	Weak transcription	Fetal Kidney	kidney
10	chr9:94975200-94983400	Weak transcription	NHDF-Ad	bronchial
11	chr9:94975400-94983000	Weak transcription	NHLF	lung
12	chr9:94975800-94983000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr9:94975800-94983000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:94976000-94983600	Weak transcription	Fetal Heart	heart
15	chr9:94976200-94983000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr9:94976200-94983000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:94976200-94983000	Weak transcription	NH-A	brain
18	chr9:94976400-94983200	Weak transcription	Brain Substantia Nigra	brain
19	chr9:94976400-94983600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr9:94976600-94983000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr9:94976600-94983000	Weak transcription	Right Ventricle	heart
22	chr9:94976600-94983200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:94976800-94983000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr9:94976800-94983000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr9:94976800-94983000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr9:94976800-94984800	Weak transcription	Colonic Mucosa	Colon
27	chr9:94977000-94983000	Weak transcription	Thymus	Thymus
28	chr9:94982800-94983200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr9:94982800-94983200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:94982800-94983200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:94982800-94983200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:94982800-94983200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:94982800-94983200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
34	chr9:94982800-94983200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr9:94982800-94983200	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr9:94982800-94983200	ZNF genes & repeats	Lung	lung
37	chr9:94982800-94983200	ZNF genes & repeats	Psoas Muscle	Psoas
38	chr9:94982800-94983200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr9:94982800-94983600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:94982800-94983800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:94982800-94984000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:94982800-94984000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:94982800-94984000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr9:94982800-94984000	Strong transcription	Brain Anterior Caudate	brain
45	chr9:94982800-94984200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr9:94982800-94985000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr9:94982800-94985200	Strong transcription	Primary B cells from cord blood	blood
48	chr9:94982800-94985200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr9:94982800-94985200	Strong transcription	Brain Germinal Matrix	brain
50	chr9:94982800-94986400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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