Variant report

Variant	rs7773924
Chromosome Location	chr6:36167189-36167190
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	POLR2A	chr6:36166973-36167459	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36083240..36096353-chr6:36161490..36168411,30	MCF-7	breast:
2	chr6:36164534..36167237-chr6:36236407..36238243,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246982	TF binding region
BRPF3	TF binding region
ENSG00000156711	Chromatin interaction
ENSG00000180316	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10807157	0.83[EUR][1000 genomes]
rs10947591	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12197499	1.00[ASN][1000 genomes]
rs13196184	1.00[ASN][1000 genomes]
rs2032506	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301422	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34262487	1.00[ASN][1000 genomes]
rs4236048	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457884	0.93[EUR][1000 genomes]
rs6457892	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457894	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6906612	0.84[EUR][1000 genomes]
rs71569325	1.00[ASN][1000 genomes]
rs7747793	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775197	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296177	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366900	0.84[EUR][1000 genomes]
rs9470228	0.84[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	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7773924	RP1-179N16.6	cis	Thyroid	GTEx
rs7773924	RP1-179N16.6	cis	Nerve Tibial	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36164400-36203000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:36165400-36167200	Enhancers	Spleen	Spleen
3	chr6:36165600-36167800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:36165800-36167200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr6:36165800-36168000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:36165800-36168000	Weak transcription	Psoas Muscle	Psoas
7	chr6:36165800-36168200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:36165800-36168200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:36165800-36168200	Weak transcription	Left Ventricle	heart
10	chr6:36165800-36168400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:36165800-36168400	Enhancers	Fetal Brain Male	brain
12	chr6:36166000-36167200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:36166000-36167400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:36166000-36167400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr6:36166000-36167600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:36166000-36167600	Weak transcription	Hela-S3	cervix
17	chr6:36166000-36167800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr6:36166000-36167800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:36166000-36168000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:36166000-36168000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:36166000-36168000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr6:36166000-36168000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:36166000-36168000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:36166000-36168000	Weak transcription	Aorta	Aorta
25	chr6:36166000-36168000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:36166000-36168000	Weak transcription	Pancreas	Pancrea
27	chr6:36166000-36168000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:36166000-36168000	Weak transcription	NHEK	skin
29	chr6:36166000-36168200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:36166000-36168200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:36166000-36168200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:36166000-36168200	Weak transcription	Esophagus	oesophagus
33	chr6:36166000-36168200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr6:36166000-36168200	Weak transcription	Lung	lung
35	chr6:36166000-36168200	Weak transcription	A549	lung
36	chr6:36166000-36168200	Weak transcription	HMEC	breast
37	chr6:36166000-36168200	Weak transcription	NH-A	brain
38	chr6:36166000-36168600	Weak transcription	Primary B cells from cord blood	blood
39	chr6:36166000-36169200	Weak transcription	Right Atrium	heart
40	chr6:36166000-36169400	Weak transcription	Small Intestine	intestine
41	chr6:36166200-36167400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:36166200-36167400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:36166200-36167600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:36166200-36167800	Weak transcription	Fetal Thymus	thymus
45	chr6:36166200-36167800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:36166200-36167800	Weak transcription	Osteobl	bone
47	chr6:36166200-36168000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:36166200-36168000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr6:36166200-36168000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:36166200-36168000	Weak transcription	Colonic Mucosa	Colon

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