Variant report

Variant	rs2095402
Chromosome Location	chr1:156007177-156007178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:156006984..156012141-chr1:156021419..156024947,7	MCF-7	breast:
2	chr1:156006132..156007660-chr1:156023380..156025295,2	K562	blood:
3	chr1:156006132..156008297-chr1:156022801..156025295,3	K562	blood:

Variant related genes	Relation type
ENSG00000160803	Chromatin interaction
ENSG00000116586	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10908486	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11577179	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11582305	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12032631	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12128541	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475766	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17381047	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17385065	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1966243	0.82[ASN][1000 genomes]
rs2297792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364400	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364401	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2886070	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34126883	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34444588	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34995046	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3820592	0.82[ASN][1000 genomes]
rs4661079	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6668204	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7517202	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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
rs2095402	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155991000-156011600	Weak transcription	Colonic Mucosa	Colon
2	chr1:155991200-156010800	Weak transcription	Fetal Heart	heart
3	chr1:155991200-156020000	Weak transcription	GM12878-XiMat	blood
4	chr1:155996000-156010400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:155996200-156007600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:155996200-156008600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:155996200-156010800	Weak transcription	NHEK	skin
8	chr1:155996200-156011000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:155996200-156019600	Weak transcription	HMEC	breast
10	chr1:155996200-156022400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:155999800-156020000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:156000600-156009800	Weak transcription	HepG2	liver
13	chr1:156001200-156022400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:156002600-156009000	Weak transcription	Small Intestine	intestine
15	chr1:156002800-156007600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:156003000-156007400	Weak transcription	NH-A	brain
17	chr1:156003200-156009600	Weak transcription	Esophagus	oesophagus
18	chr1:156003200-156012800	Weak transcription	NHLF	lung
19	chr1:156003400-156010600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:156003600-156010400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:156003800-156010400	Weak transcription	HUVEC	blood vessel
22	chr1:156004000-156010600	Weak transcription	Brain Substantia Nigra	brain
23	chr1:156004200-156010600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:156004200-156012200	Weak transcription	Primary B cells from cord blood	blood
25	chr1:156004400-156018600	Strong transcription	Fetal Muscle Leg	muscle
26	chr1:156004600-156010800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr1:156004800-156017800	Weak transcription	Fetal Brain Male	brain
28	chr1:156005200-156022400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:156005400-156008000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:156005400-156008800	Strong transcription	Placenta	Placenta
31	chr1:156005400-156022000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:156005600-156007400	Weak transcription	Fetal Kidney	kidney
33	chr1:156005600-156008400	Strong transcription	Osteobl	bone
34	chr1:156005600-156008600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:156005600-156008600	Strong transcription	Colon Smooth Muscle	Colon
36	chr1:156005600-156010400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:156005600-156011000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:156005600-156019600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:156005600-156020200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:156005600-156021200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:156005600-156021400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:156005800-156007200	Strong transcription	A549	lung
43	chr1:156005800-156008000	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr1:156005800-156008200	Strong transcription	Brain Anterior Caudate	brain
45	chr1:156005800-156008200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:156005800-156008400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:156005800-156008400	Strong transcription	Fetal Intestine Large	intestine
48	chr1:156005800-156008400	Strong transcription	Gastric	stomach
49	chr1:156005800-156008400	Strong transcription	Lung	lung
50	chr1:156005800-156008400	Strong transcription	Dnd41	blood

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