Variant report

Variant	rs34444588
Chromosome Location	chr1:156002084-156002085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155999809..156002157-chr1:156022963..156025308,2	MCF-7	breast:
2	chr1:156001011..156002840-chr1:156050011..156051954,2	MCF-7	breast:
3	chr1:156000528..156003078-chr1:156026307..156028954,2	MCF-7	breast:
4	chr1:155995911..155999462-chr1:156000578..156005266,5	K562	blood:
5	chr1:155990929..155994838-chr1:156000466..156003065,3	K562	blood:
6	chr1:155998312..156002867-chr1:156021277..156026381,6	K562	blood:
7	chr1:156000973..156003945-chr1:156018479..156020677,2	K562	blood:
8	chr1:155989375..155992569-chr1:155997687..156003698,6	K562	blood:
9	chr1:155988173..156003032-chr1:156020965..156026206,23	MCF-7	breast:
10	chr1:156001194..156003945-chr1:156019011..156020677,2	K562	blood:
11	chr1:155994337..155996997-chr1:156001255..156005019,6	K562	blood:
12	chr1:155994276..155996728-chr1:156001634..156004616,2	MCF-7	breast:
13	chr1:156000107..156002837-chr1:156019782..156022957,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163479	Chromatin interaction
ENSG00000116586	Chromatin interaction
ENSG00000160803	Chromatin interaction
ENSG00000254726	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10908486	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11577179	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11582305	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12032631	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12043212	0.80[AMR][1000 genomes]
rs12128541	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475766	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17381047	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17385065	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1966243	0.82[ASN][1000 genomes]
rs2095402	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297792	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364400	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2364401	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2886070	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34126883	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34995046	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3820592	0.82[ASN][1000 genomes]
rs4330912	0.80[AMR][1000 genomes]
rs4661079	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6668204	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7517202	0.95[AMR][1000 genomes];0.97[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
rs34444588	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155990800-156006000	Weak transcription	Spleen	Spleen
2	chr1:155990800-156006800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:155991000-156002600	Weak transcription	NHLF	lung
4	chr1:155991000-156005800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:155991000-156011600	Weak transcription	Colonic Mucosa	Colon
6	chr1:155991200-156002800	Weak transcription	NH-A	brain
7	chr1:155991200-156005600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:155991200-156005600	Weak transcription	Brain Angular Gyrus	brain
9	chr1:155991200-156005800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:155991200-156005800	Weak transcription	Liver	Liver
11	chr1:155991200-156005800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:155991200-156005800	Weak transcription	Fetal Thymus	thymus
13	chr1:155991200-156006000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:155991200-156006000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:155991200-156006600	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:155991200-156006600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:155991200-156010800	Weak transcription	Fetal Heart	heart
18	chr1:155991200-156020000	Weak transcription	GM12878-XiMat	blood
19	chr1:155992200-156005800	Weak transcription	Dnd41	blood
20	chr1:155994800-156005800	Weak transcription	Brain Germinal Matrix	brain
21	chr1:155995800-156004400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:155996000-156002600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:155996000-156005600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:155996000-156005600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr1:155996000-156005800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:155996000-156005800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:155996000-156005800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:155996000-156010400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:155996200-156005400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:155996200-156005400	Weak transcription	Placenta	Placenta
31	chr1:155996200-156005600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:155996200-156005800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:155996200-156005800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:155996200-156005800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:155996200-156005800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:155996200-156005800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:155996200-156005800	Weak transcription	Adipose Nuclei	Adipose
38	chr1:155996200-156005800	Weak transcription	Fetal Intestine Large	intestine
39	chr1:155996200-156005800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:155996200-156005800	Weak transcription	Lung	lung
41	chr1:155996200-156005800	Weak transcription	Pancreas	Pancrea
42	chr1:155996200-156005800	Weak transcription	A549	lung
43	chr1:155996200-156005800	Weak transcription	K562	blood
44	chr1:155996200-156006000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr1:155996200-156006000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:155996200-156006000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:155996200-156006200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:155996200-156006600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:155996200-156006600	Weak transcription	Fetal Lung	lung
50	chr1:155996200-156007600	Weak transcription	H1 Cell Line	embryonic stem cell

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