Variant report

Variant	rs4240912
Chromosome Location	chr1:10437778-10437779
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10437214..10438077-chr1:10475535..10476340,2	MCF-7	breast:
2	chr1:10437257..10440735-chr1:10442033..10443790,3	K562	blood:
3	chr1:10437477..10438175-chr1:10554437..10555190,2	MCF-7	breast:
4	chr1:10437151..10438144-chr1:10487374..10488787,12	K562	blood:
5	chr1:10435978..10439145-chr1:10457271..10460635,5	K562	blood:
6	chr1:10436785..10440257-chr1:10457237..10461682,6	MCF-7	breast:
7	chr1:10428901..10433692-chr1:10435173..10439576,7	K562	blood:
8	chr1:10437257..10439164-chr1:10442143..10445375,4	K562	blood:
9	chr1:10437153..10438509-chr1:10487547..10488685,4	MCF-7	breast:
10	chr1:10437408..10438442-chr1:10475501..10476423,3	K562	blood:
11	chr1:10429321..10433968-chr1:10435365..10440945,9	K562	blood:
12	chr1:10437721..10440687-chr1:10448166..10450912,2	MCF-7	breast:
13	chr1:10437686..10439718-chr1:10489014..10490590,2	K562	blood:
14	chr1:10437389..10440210-chr1:10554525..10556492,2	K562	blood:
15	chr1:10436084..10438591-chr1:10475003..10477924,2	K562	blood:
16	chr1:10437203..10438150-chr1:10554425..10555351,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265945	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000251503	Chromatin interaction
ENSG00000175279	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10864454	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11121542	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11121548	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12120465	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120499	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12125492	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12135219	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12135774	0.93[EUR][1000 genomes]
rs12137527	0.82[EUR][1000 genomes]
rs12139158	0.87[EUR][1000 genomes]
rs12141192	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12142043	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396340	0.86[EUR][1000 genomes]
rs17397129	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17400878	0.84[EUR][1000 genomes]
rs17401588	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3762289	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846204	0.85[EUR][1000 genomes]
rs4846214	0.94[EUR][1000 genomes]
rs4846215	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4846217	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58036267	0.89[EUR][1000 genomes]
rs61383940	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541092	0.87[EUR][1000 genomes]
rs6670157	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679596	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693965	0.87[EUR][1000 genomes]
rs6694081	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702280	0.86[EUR][1000 genomes]
rs6703602	0.87[EUR][1000 genomes]
rs7525661	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4240912	KIF1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10393800-10444600	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:10394200-10441800	Strong transcription	Liver	Liver
3	chr1:10398000-10438000	Weak transcription	GM12878-XiMat	blood
4	chr1:10400200-10438200	Weak transcription	Stomach Mucosa	stomach
5	chr1:10400600-10446400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:10400600-10447400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:10409800-10447400	Weak transcription	Small Intestine	intestine
8	chr1:10418400-10445600	Strong transcription	Fetal Brain Female	brain
9	chr1:10419200-10437800	Weak transcription	Right Atrium	heart
10	chr1:10419200-10442800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:10419800-10441200	Strong transcription	Fetal Stomach	stomach
12	chr1:10420000-10440000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:10420200-10445000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:10420200-10446000	Strong transcription	Brain Germinal Matrix	brain
15	chr1:10421000-10440000	Strong transcription	Fetal Intestine Small	intestine
16	chr1:10421000-10440200	Strong transcription	Stomach Smooth Muscle	stomach
17	chr1:10422400-10447200	Weak transcription	Fetal Heart	heart
18	chr1:10422600-10440600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:10425000-10438000	Strong transcription	Adipose Nuclei	Adipose
20	chr1:10425000-10438200	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:10425200-10438000	Strong transcription	Brain Anterior Caudate	brain
22	chr1:10425200-10441600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr1:10425200-10441800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:10425800-10447800	Weak transcription	Psoas Muscle	Psoas
25	chr1:10426000-10438200	Weak transcription	Fetal Thymus	thymus
26	chr1:10426600-10438200	Weak transcription	NHLF	lung
27	chr1:10427800-10439800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:10427800-10441800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:10428200-10440000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:10428400-10442000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:10430400-10443800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:10430800-10438000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:10431200-10439200	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:10431200-10439600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:10431200-10444800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:10432200-10437800	Weak transcription	Primary B cells from cord blood	blood
37	chr1:10432800-10439400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:10433400-10438000	Strong transcription	Fetal Intestine Large	intestine
39	chr1:10433400-10439000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:10433400-10439400	Strong transcription	HSMMtube	muscle
41	chr1:10433400-10442000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:10433600-10438200	Strong transcription	Brain Angular Gyrus	brain
43	chr1:10433600-10438800	Strong transcription	NHDF-Ad	bronchial
44	chr1:10433600-10439600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr1:10433600-10439600	Strong transcription	HepG2	liver
46	chr1:10433600-10440000	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr1:10433600-10441400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:10433600-10441800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr1:10433800-10437800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:10434000-10439200	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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