Variant report

Variant	rs35567183
Chromosome Location	chr12:10377146-10377147
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	POLR2A	chr12:10372534-10377685	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:10374583-10377702	IMR90	lung:	n/a	n/a
3	POLR2A	chr12:10375406-10377691	K562	blood:	n/a	n/a
4	POLR2A	chr12:10376529-10377196	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr12:10372283-10377246	A549	lung:	n/a	n/a
6	POLR2A	chr12:10375668-10377520	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10364498..10366663-chr12:10376957..10378491,2	K562	blood:
2	chr12:10363710..10369534-chr12:10376619..10381190,6	K562	blood:

Variant related genes	Relation type
KLRD1	TF binding region
ENSG00000255958	Chromatin interaction
ENSG00000139112	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10734821	0.81[EUR][1000 genomes]
rs10743874	0.83[EUR][1000 genomes]
rs11830137	0.93[EUR][1000 genomes]
rs12321554	0.85[EUR][1000 genomes]
rs12818742	0.87[EUR][1000 genomes]
rs12821332	0.85[EUR][1000 genomes]
rs12824930	0.85[EUR][1000 genomes]
rs12828163	0.85[EUR][1000 genomes]
rs2537805	0.85[EUR][1000 genomes]
rs35510688	0.85[EUR][1000 genomes]
rs4346056	0.87[EUR][1000 genomes]
rs4365134	0.87[EUR][1000 genomes]
rs58846115	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6488275	0.87[EUR][1000 genomes]
rs71450031	0.87[EUR][1000 genomes]
rs71450032	0.87[EUR][1000 genomes]
rs765792	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1054811	chr12:10350587-10440005	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr12:10366800-10386600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:10368400-10378400	Weak transcription	Fetal Heart	heart
3	chr12:10368400-10378600	Weak transcription	Stomach Mucosa	stomach
4	chr12:10368400-10380200	Weak transcription	GM12878-XiMat	blood
5	chr12:10368400-10380400	Weak transcription	Dnd41	blood
6	chr12:10369000-10377800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:10369200-10377200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:10369400-10377600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:10370000-10377200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:10370200-10377200	Strong transcription	Fetal Stomach	stomach
11	chr12:10370600-10377200	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr12:10370600-10377200	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr12:10370600-10377200	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:10370600-10377200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:10370600-10377200	Strong transcription	Stomach Smooth Muscle	stomach
16	chr12:10370600-10377600	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:10371200-10377200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:10371200-10377600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:10371400-10377600	Strong transcription	Ovary	ovary
20	chr12:10371600-10377200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:10371600-10377200	Strong transcription	Lung	lung
22	chr12:10371600-10377600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:10371800-10377200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:10371800-10377200	Strong transcription	Fetal Brain Female	brain
25	chr12:10371800-10377200	Strong transcription	HSMMtube	muscle
26	chr12:10372000-10377200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr12:10372200-10377200	Strong transcription	Fetal Intestine Large	intestine
28	chr12:10372200-10377600	Strong transcription	Spleen	Spleen
29	chr12:10372400-10377200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr12:10372400-10377200	Strong transcription	NH-A	brain
31	chr12:10372400-10377200	Strong transcription	Osteobl	bone
32	chr12:10372400-10377600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:10372400-10377600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:10372800-10379600	Weak transcription	Right Atrium	heart
35	chr12:10373000-10377600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:10373200-10377200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:10373200-10378400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:10373400-10382200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:10373600-10377600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:10373600-10377600	Strong transcription	Liver	Liver
41	chr12:10373600-10377600	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:10373600-10377600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:10373600-10377800	Strong transcription	Placenta	Placenta
44	chr12:10373800-10377200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:10373800-10377200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:10374200-10377200	Strong transcription	Adipose Nuclei	Adipose
47	chr12:10374400-10378800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:10374800-10377600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:10375000-10377800	Weak transcription	Fetal Intestine Small	intestine
50	chr12:10375000-10378000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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