Variant report

Variant	rs941193
Chromosome Location	chr12:49321518-49321519
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	CEBPB	chr12:49320989-49321518	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
FKBP11	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11168810	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12122	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12829682	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694841	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41291977	1.00[EUR][1000 genomes]
rs708242	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71464944	0.86[EUR][1000 genomes]
rs7305811	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7967350	0.86[AFR][1000 genomes]
rs7981004	0.81[ASW][hapmap]
rs833823	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs833829	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs833830	0.81[ASW][hapmap]
rs833834	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs833835	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs863855	0.81[ASW][hapmap]

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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 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	chr12:49314400-49338000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:49314400-49338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:49319200-49349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:49319400-49325200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:49319400-49337800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:49319600-49323200	Weak transcription	Brain Germinal Matrix	brain
7	chr12:49319600-49324400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:49319600-49326600	Weak transcription	Aorta	Aorta
9	chr12:49319600-49331800	Weak transcription	Psoas Muscle	Psoas
10	chr12:49319600-49332800	Weak transcription	Small Intestine	intestine
11	chr12:49319600-49334600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:49319800-49321600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:49319800-49321600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:49319800-49321800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:49319800-49321800	Weak transcription	Fetal Intestine Small	intestine
16	chr12:49319800-49322800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:49319800-49322800	Weak transcription	Esophagus	oesophagus
18	chr12:49319800-49322800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr12:49319800-49323000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:49319800-49323000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:49319800-49323000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:49319800-49323000	Weak transcription	Adipose Nuclei	Adipose
23	chr12:49319800-49323000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:49319800-49323000	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:49319800-49323000	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:49319800-49323000	Weak transcription	Lung	lung
27	chr12:49319800-49323000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:49319800-49323000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:49319800-49323000	Weak transcription	HSMM	muscle
30	chr12:49319800-49323200	Weak transcription	Brain Anterior Caudate	brain
31	chr12:49319800-49323200	Weak transcription	Fetal Intestine Large	intestine
32	chr12:49319800-49323200	Weak transcription	Fetal Lung	lung
33	chr12:49319800-49323200	Weak transcription	Left Ventricle	heart
34	chr12:49319800-49323400	Weak transcription	HMEC	breast
35	chr12:49319800-49323400	Weak transcription	NH-A	brain
36	chr12:49319800-49323400	Weak transcription	NHDF-Ad	bronchial
37	chr12:49319800-49324400	Weak transcription	Primary B cells from cord blood	blood
38	chr12:49319800-49324400	Weak transcription	Liver	Liver
39	chr12:49319800-49324400	Weak transcription	Fetal Kidney	kidney
40	chr12:49319800-49324400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:49319800-49324400	Weak transcription	Spleen	Spleen
42	chr12:49319800-49325000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:49319800-49325000	Weak transcription	Brain Angular Gyrus	brain
44	chr12:49319800-49325000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr12:49319800-49325000	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:49319800-49325000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:49319800-49325000	Weak transcription	Brain Substantia Nigra	brain
48	chr12:49319800-49325000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr12:49319800-49325000	Weak transcription	Thymus	Thymus
50	chr12:49319800-49326000	Weak transcription	Primary hematopoietic stem cells	blood

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