Variant report

Variant	rs1996091
Chromosome Location	chr12:26160064-26160065
allele	A/G
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	SPI1	chr12:26159775-26160202	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26158771..26161090-chr4:116678922..116681398,2	MCF-7	breast:
2	chr12:26118560..26120578-chr12:26158063..26160123,2	K562	blood:

Variant related genes	Relation type
RASSF8	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10219479	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11048395	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11048396	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12300961	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12304275	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12308128	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12314388	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16929960	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17354107	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17354204	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17354478	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17361182	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17361755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362314	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17362453	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17362593	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17362614	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17362901	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17458637	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17459432	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17459771	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17459910	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17460800	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4963645	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4963945	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4963948	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4963949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4963950	0.88[ASN][1000 genomes]
rs55965624	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56051193	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56169892	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56228589	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56369291	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56399330	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58178281	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73074880	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73074882	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73074895	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73077109	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73077123	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73077138	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73077155	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73077158	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73079015	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73079022	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73079027	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73079032	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73079036	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73079055	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs73079059	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7486150	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26145600-26163000	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:26146200-26163000	Weak transcription	Lung	lung
3	chr12:26148000-26163600	Weak transcription	Aorta	Aorta
4	chr12:26150800-26163200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:26151000-26163000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:26151400-26160400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:26151400-26162000	Weak transcription	Hela-S3	cervix
8	chr12:26152200-26162800	Weak transcription	HSMM	muscle
9	chr12:26154800-26163400	Weak transcription	HSMMtube	muscle
10	chr12:26155800-26163200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:26156000-26160200	Weak transcription	Fetal Stomach	stomach
12	chr12:26156000-26162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:26156200-26161800	Weak transcription	Fetal Lung	lung
14	chr12:26156200-26163000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:26156400-26160200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:26156400-26160200	Weak transcription	Fetal Intestine Large	intestine
17	chr12:26156400-26160200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:26156400-26161600	Weak transcription	Brain Anterior Caudate	brain
19	chr12:26156400-26161800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:26156400-26161800	Weak transcription	Osteobl	bone
21	chr12:26156400-26162400	Weak transcription	Ovary	ovary
22	chr12:26156400-26162600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:26156400-26162600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:26156400-26163000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr12:26156400-26163400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:26156600-26160200	Weak transcription	NHLF	lung
27	chr12:26156600-26160400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:26156600-26162400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:26156600-26162800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:26156600-26162800	Weak transcription	NH-A	brain
31	chr12:26156600-26163600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:26157200-26160200	Weak transcription	Fetal Intestine Small	intestine
33	chr12:26157200-26161200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:26157400-26160200	Weak transcription	NHDF-Ad	bronchial
35	chr12:26157400-26161000	Weak transcription	Psoas Muscle	Psoas
36	chr12:26157800-26161600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:26158600-26162600	Weak transcription	HMEC	breast
38	chr12:26158800-26160600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:26158800-26162600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:26159400-26160800	Enhancers	Colon Smooth Muscle	Colon
41	chr12:26159400-26162800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:26159600-26160600	Enhancers	H9 Cell Line	embryonic stem cell
43	chr12:26159600-26160600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:26159600-26160600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:26159600-26160600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr12:26159600-26160600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:26159600-26160600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:26159600-26160600	Enhancers	Right Atrium	heart
49	chr12:26159600-26160600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr12:26159600-26160800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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