Variant report

Variant	rs10844325
Chromosome Location	chr12:9805098-9805099
allele	C/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	IRF1	chr12:9804627-9805303	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9798786..9803516-chr12:9803864..9807970,10	MCF-7	breast:
2	chr12:9799323..9802837-chr12:9803671..9808302,9	K562	blood:

Variant related genes	Relation type
ENSG00000256594	TF binding region
ENSG00000256442	TF binding region
ENSG00000256594	Chromatin interaction
ENSG00000256442	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10047657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743806	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10771987	0.94[ASN][1000 genomes]
rs10772001	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10772010	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10844269	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10844373	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11052241	0.81[AFR][1000 genomes]
rs1560007	0.92[ASN][1000 genomes]
rs17805558	0.92[ASN][1000 genomes]
rs1863873	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863874	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1863875	0.81[AFR][1000 genomes]
rs2401386	0.83[EUR][1000 genomes]
rs34383380	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764023	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3764024	0.97[ASN][1000 genomes]
rs7131784	0.94[ASN][1000 genomes]
rs7132715	0.82[EUR][1000 genomes]
rs7299076	0.92[ASN][1000 genomes]
rs7313927	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7316121	0.94[ASN][1000 genomes]
rs7959272	0.92[ASN][1000 genomes]
rs7975716	0.91[ASN][1000 genomes]
rs969367	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv2757489	chr12:9583455-9810764	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9801600-9811200	Weak transcription	Gastric	stomach
2	chr12:9801600-9815600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:9802000-9805200	Flanking Active TSS	Dnd41	blood
4	chr12:9802200-9806600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:9802200-9815200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:9802400-9806200	Weak transcription	A549	lung
7	chr12:9802400-9849800	Weak transcription	Pancreas	Pancrea
8	chr12:9802600-9807200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:9802600-9812800	Weak transcription	Ovary	ovary
10	chr12:9802600-9814400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:9803000-9806000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:9803000-9806600	Weak transcription	Placenta	Placenta
13	chr12:9803000-9806600	Weak transcription	Psoas Muscle	Psoas
14	chr12:9803000-9811200	Weak transcription	Fetal Intestine Small	intestine
15	chr12:9803000-9812200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:9803000-9816400	Weak transcription	Brain Germinal Matrix	brain
17	chr12:9803000-9816800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:9803000-9819800	Weak transcription	Fetal Brain Female	brain
19	chr12:9803000-9820200	Weak transcription	Brain Substantia Nigra	brain
20	chr12:9803000-9822200	Weak transcription	Small Intestine	intestine
21	chr12:9803200-9812400	Weak transcription	Liver	Liver
22	chr12:9803200-9813400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:9803400-9806200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:9803600-9805200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr12:9803600-9806000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:9803600-9806400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr12:9803600-9806600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:9803600-9806800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr12:9803600-9812200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:9803600-9826200	Weak transcription	Esophagus	oesophagus
31	chr12:9803800-9805600	Enhancers	HepG2	liver
32	chr12:9803800-9806200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:9803800-9806200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:9803800-9806600	Weak transcription	Adipose Nuclei	Adipose
35	chr12:9804000-9805200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:9804000-9806000	Enhancers	Primary B cells from peripheral blood	blood
37	chr12:9804000-9806200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:9804000-9806800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:9804000-9806800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr12:9804000-9814200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:9804200-9806000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:9804200-9806000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:9804200-9806400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:9804200-9806400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:9804200-9806400	Weak transcription	NH-A	brain
46	chr12:9804200-9806600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr12:9804200-9806600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:9804200-9806600	Weak transcription	HSMMtube	muscle
49	chr12:9804200-9807800	Weak transcription	Aorta	Aorta
50	chr12:9804200-9811200	Weak transcription	Right Ventricle	heart

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