Variant report

Variant	rs35994401
Chromosome Location	chr12:64492512-64492513
allele	A/C
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	CTCF	chr12:64492480-64492630	NHDF-neo	bronchial:	n/a	n/a
2	GATA3	chr12:64492453-64493750	SK-N-SH	brain:	n/a	n/a
3	RCOR1	chr12:64492347-64494137	IMR90	lung:	n/a	n/a
4	RAD21	chr12:64492462-64492837	SK-N-SH_RA	brain:	n/a	n/a
5	NFIC	chr12:64492424-64493824	SK-N-SH	brain:	n/a	n/a
6	EP300	chr12:64492457-64492867	SK-N-SH_RA	brain:	n/a	n/a
7	TCF12	chr12:64492441-64492955	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr12:64492480-64492630	HMF	breast:	n/a	n/a
9	TCF12	chr12:64492478-64493891	SK-N-SH	brain:	n/a	n/a
10	JUND	chr12:64492502-64493861	SK-N-SH	brain:	n/a	chr12:64493394-64493402 chr12:64493394-64493402 chr12:64493393-64493403 chr12:64493395-64493402
11	EP300	chr12:64492472-64493796	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000255886	TF binding region

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11832841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835401	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835930	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838032	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100093	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100102	0.82[ASN][1000 genomes]
rs17100105	0.82[ASN][1000 genomes]
rs2270731	0.84[ASN][1000 genomes]
rs3803105	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57729579	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59228761	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59329353	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59776688	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298523	0.84[ASN][1000 genomes]
rs73321318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321360	0.82[ASN][1000 genomes]
rs73321378	0.82[ASN][1000 genomes]
rs74099279	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74099280	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74099281	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs789734	0.82[ASN][1000 genomes]
rs789735	0.82[ASN][1000 genomes]
rs7968523	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64457000-64510600	Weak transcription	HepG2	liver
2	chr12:64474800-64521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:64477400-64520800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:64482600-64497600	Weak transcription	Fetal Kidney	kidney
5	chr12:64482800-64493000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:64482800-64503400	Weak transcription	Fetal Intestine Large	intestine
7	chr12:64483000-64492600	Weak transcription	Fetal Stomach	stomach
8	chr12:64483000-64492600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:64483000-64521400	Weak transcription	Liver	Liver
10	chr12:64483200-64498200	Weak transcription	Ovary	ovary
11	chr12:64483200-64502400	Weak transcription	Aorta	Aorta
12	chr12:64483200-64502400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:64483200-64503400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:64483200-64520800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:64483200-64521400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:64483400-64495600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:64483400-64503600	Weak transcription	Right Ventricle	heart
18	chr12:64483400-64505400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:64483600-64492600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:64483600-64503600	Weak transcription	Pancreas	Pancrea
21	chr12:64483600-64519800	Weak transcription	Gastric	stomach
22	chr12:64483600-64521400	Weak transcription	Lung	lung
23	chr12:64483800-64492600	Weak transcription	Adipose Nuclei	Adipose
24	chr12:64484000-64493200	Weak transcription	Hela-S3	cervix
25	chr12:64484200-64492600	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:64485400-64502800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:64485800-64492600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:64486600-64504200	Weak transcription	Fetal Heart	heart
29	chr12:64487000-64493000	Weak transcription	Fetal Lung	lung
30	chr12:64487400-64526600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:64488800-64492800	Weak transcription	Fetal Brain Male	brain
32	chr12:64489000-64506400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:64490000-64492600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:64490400-64498600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:64490600-64496600	Genic enhancers	NHDF-Ad	bronchial
36	chr12:64491000-64493600	Enhancers	Fetal Muscle Leg	muscle
37	chr12:64491000-64493800	Enhancers	HSMM	muscle
38	chr12:64491200-64492800	Strong transcription	Fetal Intestine Small	intestine
39	chr12:64491200-64493200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:64491200-64493600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:64491200-64494000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr12:64491200-64494200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:64491200-64494400	Strong transcription	Fetal Brain Female	brain
44	chr12:64491400-64492600	Genic enhancers	HSMMtube	muscle
45	chr12:64491400-64493000	Enhancers	NHLF	lung
46	chr12:64491400-64493400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:64491400-64493800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:64491400-64494600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr12:64491600-64492600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:64491600-64492600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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