Variant report

Variant	rs1966243
Chromosome Location	chr1:155977480-155977481
allele	A/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	chr1:155977311-155977880	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155965947..155968547-chr1:155977154..155978794,2	K562	blood:
2	chr1:155958637..155961186-chr1:155975621..155978419,3	MCF-7	breast:
3	chr1:155977027..155979132-chr1:156029472..156031221,2	MCF-7	breast:

Variant related genes	Relation type
ARHGEF2	TF binding region
ENSG00000132698	Chromatin interaction
ENSG00000224276	Chromatin interaction
ENSG00000116584	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10908486	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11577179	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12032631	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12128541	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1475766	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17381047	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17385065	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2095402	0.82[ASN][1000 genomes]
rs2297792	0.82[ASN][1000 genomes]
rs2364400	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2364401	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2886070	0.83[AMR][1000 genomes]
rs34126883	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs34444588	0.82[ASN][1000 genomes]
rs34995046	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4661079	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6668204	0.93[ASN][1000 genomes]
rs7517202	0.82[ASN][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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1966243	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155959200-155978200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:155966400-155978200	Weak transcription	Left Ventricle	heart
3	chr1:155966400-155978400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:155967000-155978400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:155970800-155978200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:155971400-155978600	Weak transcription	Brain Angular Gyrus	brain
7	chr1:155971400-155978600	Weak transcription	NHDF-Ad	bronchial
8	chr1:155971600-155978400	Weak transcription	Ovary	ovary
9	chr1:155971600-155978400	Weak transcription	Right Ventricle	heart
10	chr1:155971600-155978600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:155971800-155978400	Weak transcription	Osteobl	bone
12	chr1:155971800-155978600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:155972000-155978600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:155972400-155978400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:155972400-155978400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:155972400-155978400	Weak transcription	Fetal Kidney	kidney
17	chr1:155972400-155978600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:155972800-155978400	Weak transcription	HSMMtube	muscle
19	chr1:155973400-155978200	Weak transcription	Esophagus	oesophagus
20	chr1:155973400-155978400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:155973400-155978400	Weak transcription	HSMM	muscle
22	chr1:155973600-155978600	Weak transcription	NH-A	brain
23	chr1:155973800-155978200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:155973800-155978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:155973800-155978400	Weak transcription	Small Intestine	intestine
26	chr1:155973800-155978600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:155973800-155978600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:155973800-155989400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:155974000-155978400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:155974000-155978400	Weak transcription	Brain Germinal Matrix	brain
31	chr1:155974000-155978400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:155974800-155978200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:155974800-155978200	Weak transcription	NHLF	lung
34	chr1:155975000-155978200	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:155975000-155978200	Weak transcription	HUVEC	blood vessel
36	chr1:155975000-155978400	Weak transcription	Primary B cells from cord blood	blood
37	chr1:155975000-155978400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:155975000-155978600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:155975000-155978600	Weak transcription	Colonic Mucosa	Colon
40	chr1:155975000-155978600	Weak transcription	GM12878-XiMat	blood
41	chr1:155975400-155978200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:155975400-155978200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:155975400-155978200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:155975400-155978400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:155975400-155978400	Weak transcription	Dnd41	blood
46	chr1:155975400-155978600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:155975400-155978600	Weak transcription	Brain Anterior Caudate	brain
48	chr1:155975400-155978600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:155975400-155979200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:155975600-155978200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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