Variant report

Variant	rs74091911
Chromosome Location	chr12:51619296-51619297
allele	C/T
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	KAT2A	chr12:51619256-51619337	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
2	chr12:51440642..51443592-chr12:51616961..51619958,3	MCF-7	breast:
3	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:

Variant related genes	Relation type
ENSG00000269339	TF binding region
ENSG00000050426	Chromatin interaction
ENSG00000184271	Chromatin interaction

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

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

rs_ID	r²[population]
rs11169773	1.00[EUR][1000 genomes]
rs55704499	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55749225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56298522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56664350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57515945	1.00[EUR][1000 genomes]
rs58190556	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58959803	1.00[EUR][1000 genomes]
rs58974544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59459113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59839052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59898968	1.00[EUR][1000 genomes]
rs60852569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305801	1.00[EUR][1000 genomes]
rs73307705	1.00[EUR][1000 genomes]
rs73307731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307746	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73307750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74091914	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51612800-51619800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:51612800-51621000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:51612800-51622200	Weak transcription	Lung	lung
4	chr12:51612800-51622800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:51613000-51621200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:51613000-51621200	Weak transcription	Fetal Stomach	stomach
7	chr12:51613000-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:51613400-51621600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:51613400-51622400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:51613400-51631600	Weak transcription	Thymus	Thymus
11	chr12:51613400-51631800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:51613400-51631800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:51613400-51632000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:51613600-51620000	Weak transcription	Fetal Intestine Small	intestine
15	chr12:51613600-51631800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:51613600-51631800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr12:51613600-51631800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:51613800-51623600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:51614200-51622200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:51614200-51631600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:51616400-51631600	Weak transcription	Gastric	stomach
22	chr12:51616800-51625000	Weak transcription	Ovary	ovary
23	chr12:51616800-51631800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:51618600-51619400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr12:51618600-51619600	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:51618600-51621000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:51618600-51621200	Enhancers	Fetal Brain Male	brain
28	chr12:51618800-51619600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr12:51618800-51620000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr12:51618800-51620000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:51619000-51619400	Enhancers	Fetal Brain Female	brain
32	chr12:51619000-51619600	Enhancers	Brain Substantia Nigra	brain
33	chr12:51619000-51619800	Enhancers	Brain Cingulate Gyrus	brain
34	chr12:51619000-51620000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:51619200-51619400	Active TSS	Brain Anterior Caudate	brain
36	chr12:51619200-51619400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr12:51619200-51619600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr12:51619200-51619600	Enhancers	Brain Angular Gyrus	brain
39	chr12:51619200-51619600	Flanking Active TSS	Brain Germinal Matrix	brain

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