Variant report

Variant	rs4846214
Chromosome Location	chr1:10400718-10400719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10400297..10401878-chr1:10402520..10404187,2	K562	blood:
2	chr1:10398291..10400779-chr1:10401590..10404208,2	MCF-7	breast:
3	chr1:10382347..10384488-chr1:10398364..10401134,2	K562	blood:

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

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

rs_ID	r²[population]
rs10864454	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11121542	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11121548	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120465	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12120499	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125492	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135219	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135774	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12137527	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139158	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141192	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142043	0.94[EUR][1000 genomes]
rs17396340	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397129	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400878	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401588	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762289	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4240912	0.94[EUR][1000 genomes]
rs4240913	0.94[EUR][1000 genomes]
rs4846204	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846215	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846217	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58036267	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61383940	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6541092	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6670157	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6679596	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6693965	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694081	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6702280	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703602	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525661	0.94[EUR][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	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
rs4846214	KIF1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10358800-10407000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:10364600-10431000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:10380200-10404800	Weak transcription	Psoas Muscle	Psoas
4	chr1:10380400-10436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:10380600-10401000	Weak transcription	A549	lung
6	chr1:10380600-10426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:10381000-10436400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:10385200-10436400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:10386000-10434800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:10386400-10403000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:10386400-10421600	Weak transcription	Hela-S3	cervix
12	chr1:10386800-10408600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:10393200-10415800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:10393200-10431200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:10393400-10402200	Strong transcription	Fetal Stomach	stomach
16	chr1:10393600-10430800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr1:10393800-10406000	Strong transcription	Placenta	Placenta
18	chr1:10393800-10444600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:10394200-10409800	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:10394200-10410000	Strong transcription	Fetal Brain Female	brain
21	chr1:10394200-10410000	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr1:10394200-10411400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:10394200-10413200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:10394200-10414200	Strong transcription	Brain Germinal Matrix	brain
25	chr1:10394200-10414200	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:10394200-10415800	Strong transcription	Adipose Nuclei	Adipose
27	chr1:10394200-10415800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr1:10394200-10441800	Strong transcription	Liver	Liver
29	chr1:10394400-10402400	Strong transcription	Pancreas	Pancrea
30	chr1:10394400-10404400	Strong transcription	Colon Smooth Muscle	Colon
31	chr1:10394400-10407000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:10394400-10409400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:10394400-10410000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr1:10394400-10411200	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:10394400-10411400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:10394400-10413400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:10394400-10414200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr1:10394600-10405200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:10394800-10401200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:10395200-10403000	Weak transcription	Dnd41	blood
41	chr1:10395600-10403200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:10395600-10408400	Weak transcription	Small Intestine	intestine
43	chr1:10395600-10425200	Weak transcription	Thymus	Thymus
44	chr1:10396400-10409400	Strong transcription	HepG2	liver
45	chr1:10397400-10401800	Genic enhancers	Brain Anterior Caudate	brain
46	chr1:10397600-10401600	Genic enhancers	Brain Angular Gyrus	brain
47	chr1:10397600-10403000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:10397600-10421000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:10397800-10401000	Weak transcription	Lung	lung
50	chr1:10397800-10401200	Weak transcription	Fetal Brain Male	brain

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