Variant report

Variant	rs12120465
Chromosome Location	chr1:10450805-10450806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10447111..10452516-chr1:10455817..10460024,9	K562	blood:
2	chr1:10446950..10451985-chr1:10457311..10462205,6	K562	blood:
3	chr1:10449520..10451785-chr1:10471449..10473119,2	K562	blood:

Variant related genes	Relation type
ENSG00000142657	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10864454	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11121542	0.94[EUR][1000 genomes]
rs11121548	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12120499	0.82[EUR][1000 genomes]
rs12125492	0.94[EUR][1000 genomes]
rs12135219	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12135774	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12137527	0.81[EUR][1000 genomes]
rs12139158	0.84[EUR][1000 genomes]
rs12141192	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12142043	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396340	0.83[EUR][1000 genomes]
rs17397129	0.87[EUR][1000 genomes]
rs17400878	0.83[EUR][1000 genomes]
rs17401588	0.86[EUR][1000 genomes]
rs3762289	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240912	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240913	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846204	0.82[EUR][1000 genomes]
rs4846214	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4846215	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4846217	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58036267	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61383940	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541092	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6670157	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679596	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693965	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6694081	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702280	0.83[EUR][1000 genomes]
rs6703602	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7525661	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12120465	KIF1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10438600-10458200	Weak transcription	Right Atrium	heart
2	chr1:10439600-10458200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:10440000-10451800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:10440000-10458400	Weak transcription	Lung	lung
5	chr1:10444800-10458200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:10445600-10454000	Weak transcription	Fetal Brain Female	brain
7	chr1:10447800-10454000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:10447800-10458400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:10448200-10452800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:10448200-10454200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:10448200-10458200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:10448200-10458200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:10448200-10458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:10448400-10454400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:10448600-10451200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:10448600-10453800	Weak transcription	Fetal Stomach	stomach
17	chr1:10448600-10454200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:10448600-10454800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:10448600-10458200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:10448600-10458200	Weak transcription	Brain Angular Gyrus	brain
21	chr1:10448600-10458400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:10448600-10458400	Weak transcription	HSMM	muscle
23	chr1:10448800-10453400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:10448800-10458200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:10448800-10458200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:10448800-10458200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:10448800-10458200	Weak transcription	HUVEC	blood vessel
28	chr1:10448800-10458200	Weak transcription	NH-A	brain
29	chr1:10448800-10458200	Weak transcription	NHEK	skin
30	chr1:10449000-10451800	Enhancers	Primary B cells from cord blood	blood
31	chr1:10449000-10452600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:10449000-10453800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:10449000-10454000	Weak transcription	Brain Substantia Nigra	brain
34	chr1:10449000-10458200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:10449000-10458200	Weak transcription	Brain Anterior Caudate	brain
36	chr1:10449000-10458200	Weak transcription	Fetal Intestine Large	intestine
37	chr1:10449000-10458200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:10449000-10458200	Weak transcription	Thymus	Thymus
39	chr1:10449000-10458200	Weak transcription	HSMMtube	muscle
40	chr1:10449200-10458200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:10449200-10458200	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:10449200-10458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:10449600-10451000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr1:10449600-10454000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:10449600-10457400	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:10449600-10458200	Weak transcription	Esophagus	oesophagus
47	chr1:10449600-10458200	Weak transcription	Pancreas	Pancrea
48	chr1:10449600-10458200	Weak transcription	Hela-S3	cervix
49	chr1:10449800-10451000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:10449800-10453800	Weak transcription	Fetal Intestine Small	intestine

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