Variant report

Variant	rs61759613
Chromosome Location	chr12:25404905-25404906
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	MXI1	chr12:25403601-25405035	IMR90	lung:	n/a	n/a
2	MXI1	chr12:25402449-25405297	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr12:25403607-25404926	K562	blood:	n/a	n/a
4	MAZ	chr12:25403729-25404958	HepG2	liver:	n/a	n/a
5	KAP1	chr12:25404160-25405326	U2OS	brain:	n/a	n/a
6	ARID3A	chr12:25404455-25405099	K562	blood:	n/a	n/a
7	HCFC1	chr12:25403546-25405373	Hela-S3	cervix:	n/a	n/a
8	CUX1	chr12:25404282-25405000	K562	blood:	n/a	n/a
9	GATA2	chr12:25403758-25405190	SH-SY5Y	brain:	n/a	chr12:25405063-25405073
10	SMARCC1	chr12:25403697-25404979	Hela-S3	cervix:	n/a	n/a
11	EP300	chr12:25403756-25405045	K562	blood:	n/a	chr12:25403771-25403780 chr12:25403895-25403911 chr12:25404307-25404323 chr12:25404962-25404976 chr12:25403904-25403920
12	RCOR1	chr12:25403669-25405134	K562	blood:	n/a	n/a
13	POLR2A	chr12:25402902-25405001	IMR90	lung:	n/a	n/a
14	RCOR1	chr12:25404685-25405101	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:25346725..25349884-chr12:25402144..25405058,5	K562	blood:
2	chr12:25346543..25348618-chr12:25402303..25405258,3	K562	blood:

Variant related genes	Relation type
KRAS	TF binding region
ENSG00000205707	Chromatin interaction
ENSG00000118307	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10400492	1.00[EUR][1000 genomes]
rs11047859	1.00[EUR][1000 genomes]
rs11047869	1.00[EUR][1000 genomes]
rs11047898	1.00[EUR][1000 genomes]
rs11829456	1.00[EUR][1000 genomes]
rs11833781	1.00[EUR][1000 genomes]
rs11835872	1.00[EUR][1000 genomes]
rs12307064	1.00[EUR][1000 genomes]
rs12313763	1.00[EUR][1000 genomes]
rs34164267	1.00[EUR][1000 genomes]
rs61759608	1.00[EUR][1000 genomes]
rs61759631	1.00[EUR][1000 genomes]
rs61761086	1.00[EUR][1000 genomes]
rs61761090	1.00[EUR][1000 genomes]
rs61761092	1.00[EUR][1000 genomes]
rs61761151	1.00[EUR][1000 genomes]
rs61762363	1.00[EUR][1000 genomes]
rs61764371	1.00[EUR][1000 genomes]
rs61764377	1.00[EUR][1000 genomes]
rs7304274	1.00[EUR][1000 genomes]
rs7953861	1.00[EUR][1000 genomes]
rs7972282	1.00[EUR][1000 genomes]
rs7978771	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv898926	chr12:25367669-25408047	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv898927	chr12:25389220-25408047	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3324549	chr12:25402710-25405458	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25402400-25405200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr12:25402600-25405000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr12:25402600-25405000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:25402800-25405000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:25403000-25405000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:25403000-25405000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr12:25403000-25405000	Active TSS	Brain Hippocampus Middle	brain
8	chr12:25403000-25405000	Active TSS	Rectal Smooth Muscle	rectum
9	chr12:25403200-25405000	Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:25403400-25405000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:25404200-25405000	Flanking Bivalent TSS/Enh	Dnd41	blood
12	chr12:25404400-25405000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:25404400-25405000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:25404400-25405000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:25404400-25405000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:25404400-25405000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:25404400-25405000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:25404400-25405000	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr12:25404400-25405000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr12:25404400-25405000	Active TSS	Fetal Brain Male	brain
21	chr12:25404400-25405000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr12:25404400-25405200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:25404400-25405200	Flanking Active TSS	K562	blood
24	chr12:25404400-25406800	Weak transcription	Gastric	stomach
25	chr12:25404600-25405000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:25404600-25405000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:25404600-25405000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr12:25404600-25405000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr12:25404600-25405000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:25404600-25405000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr12:25404600-25405000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr12:25404600-25405000	Flanking Active TSS	Fetal Kidney	kidney
33	chr12:25404600-25405000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr12:25404600-25405000	Enhancers	Small Intestine	intestine
35	chr12:25404600-25405000	Enhancers	Stomach Mucosa	stomach
36	chr12:25404600-25405000	Flanking Active TSS	A549	lung
37	chr12:25404600-25406800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:25404600-25407200	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:25404600-25407200	Weak transcription	Pancreas	Pancrea
40	chr12:25404800-25405000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr12:25404800-25405000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:25404800-25405000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:25404800-25405000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
44	chr12:25404800-25405000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr12:25404800-25405000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr12:25404800-25405000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:25404800-25405000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:25404800-25405000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:25404800-25405000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
50	chr12:25404800-25405000	Enhancers	Liver	Liver

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