Variant report

Variant	rs337191
Chromosome Location	chr1:220920753-220920754
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	chr1:220920682-220922398	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr1:220920620-220922531	SK-N-SH	brain:	n/a	chr1:220922203-220922212

No.	Distal block	Cell Line	Cell type
1	chr1:220920704..220923005-chr1:220929506..220932087,2	MCF-7	breast:
2	chr1:220920532..220923272-chr1:220926936..220929369,4	MCF-7	breast:
3	chr1:220915318..220916858-chr1:220919802..220921393,2	MCF-7	breast:
4	chr1:220920087..220922800-chr1:220958239..220960991,2	MCF-7	breast:

Variant related genes	Relation type
MARC2	TF binding region
ENSG00000186205	Chromatin interaction
ENSG00000117791	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10779415	0.88[EUR][1000 genomes]
rs10863562	0.88[EUR][1000 genomes]
rs11118597	0.87[EUR][1000 genomes]
rs12738691	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12758783	0.94[EUR][1000 genomes]
rs189231	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs234223	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2935225	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2994529	0.87[EUR][1000 genomes]
rs2994530	0.90[EUR][1000 genomes]
rs3015251	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3015252	0.92[EUR][1000 genomes]
rs337147	0.82[EUR][1000 genomes]
rs337148	0.82[EUR][1000 genomes]
rs337150	0.82[EUR][1000 genomes]
rs337156	0.84[EUR][1000 genomes]
rs337158	0.86[EUR][1000 genomes]
rs337159	0.84[EUR][1000 genomes]
rs337160	0.86[EUR][1000 genomes]
rs337161	0.86[EUR][1000 genomes]
rs337162	0.84[EUR][1000 genomes]
rs337164	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs337169	0.94[ASN][1000 genomes]
rs337172	0.98[ASN][1000 genomes]
rs337187	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs337189	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs337190	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs365346	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs365398	0.86[EUR][1000 genomes]
rs365693	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3795536	0.88[EUR][1000 genomes]
rs381023	0.87[EUR][1000 genomes]
rs382959	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs386118	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs391315	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs393585	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs421736	0.85[EUR][1000 genomes]
rs425473	0.85[EUR][1000 genomes]
rs427216	0.82[AMR][1000 genomes]
rs439130	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs443071	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs443189	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6659604	0.88[EUR][1000 genomes]
rs774134	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs774138	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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	esv2754270	chr1:220850116-220929155	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv160470	chr1:220919015-220922779	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs337191	C1orf115	cis	multi-tissue	Pritchard
rs337191	C1orf115	Cis_1M	lymphoblastoid	RTeQTL
rs337191	MOSC2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220906400-220921000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:220908400-220920800	Weak transcription	Pancreas	Pancrea
3	chr1:220915800-220921400	Weak transcription	Gastric	stomach
4	chr1:220916200-220921200	Weak transcription	Lung	lung
5	chr1:220918600-220921200	Weak transcription	Esophagus	oesophagus
6	chr1:220919400-220920800	Enhancers	Fetal Intestine Large	intestine
7	chr1:220919400-220920800	Enhancers	Fetal Intestine Small	intestine
8	chr1:220919600-220920800	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:220919800-220920800	Enhancers	Liver	Liver
10	chr1:220919800-220920800	Enhancers	Fetal Lung	lung
11	chr1:220919800-220920800	Bivalent Enhancer	HepG2	liver
12	chr1:220920000-220920800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr1:220920000-220920800	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:220920000-220920800	Enhancers	A549	lung
15	chr1:220920000-220921000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:220920200-220920800	Enhancers	Fetal Stomach	stomach
17	chr1:220920200-220921000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr1:220920200-220921200	Enhancers	Placenta	Placenta
19	chr1:220920400-220920800	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:220920400-220921000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:220920400-220921000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:220920400-220921400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr1:220920600-220920800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:220920600-220920800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:220920600-220920800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
26	chr1:220920600-220920800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:220920600-220920800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:220920600-220920800	Enhancers	Adipose Nuclei	Adipose
29	chr1:220920600-220920800	Enhancers	Colon Smooth Muscle	Colon
30	chr1:220920600-220920800	Enhancers	Fetal Brain Female	brain
31	chr1:220920600-220920800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:220920600-220920800	Enhancers	Hela-S3	cervix
33	chr1:220920600-220921000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:220920600-220921200	Flanking Active TSS	Fetal Heart	heart
35	chr1:220920600-220921400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr1:220920600-220921400	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr1:220920600-220921600	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr1:220920600-220922600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr1:220920600-220922800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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