Variant report

Variant	rs34045426
Chromosome Location	chr1:10466111-10466112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10457799..10462480-chr1:10462835..10469512,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142657	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1002076	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10492972	0.83[EUR][1000 genomes]
rs1049887	0.83[EUR][1000 genomes]
rs11121545	0.87[EUR][1000 genomes]
rs11121551	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11121552	0.83[EUR][1000 genomes]
rs11121555	0.84[ASN][1000 genomes]
rs11121557	0.88[ASN][1000 genomes]
rs11121560	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11121561	0.92[ASN][1000 genomes]
rs11121563	0.93[ASN][1000 genomes]
rs11121566	0.95[ASN][1000 genomes]
rs1138791	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11576384	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11576654	0.83[EUR][1000 genomes]
rs11578694	0.81[EUR][1000 genomes]
rs11579365	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11585794	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11586842	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11587309	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11587495	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11587854	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12118323	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12130563	0.89[EUR][1000 genomes]
rs12131441	0.89[EUR][1000 genomes]
rs12137880	0.86[EUR][1000 genomes]
rs12141201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12141416	0.83[EUR][1000 genomes]
rs12409754	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12722830	0.87[EUR][1000 genomes]
rs12746471	0.95[ASN][1000 genomes]
rs12755363	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1536262	0.88[ASN][1000 genomes]
rs1555849	0.87[EUR][1000 genomes]
rs17034821	0.87[EUR][1000 genomes]
rs17410217	0.82[EUR][1000 genomes]
rs1889309	0.84[EUR][1000 genomes]
rs2185252	0.87[EUR][1000 genomes]
rs2229687	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236678	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276100	0.87[EUR][1000 genomes]
rs34075302	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34636442	0.82[EUR][1000 genomes]
rs35388505	0.85[EUR][1000 genomes]
rs35716098	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35759975	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35811280	0.86[ASN][1000 genomes]
rs3737155	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3748577	0.83[EUR][1000 genomes]
rs3748579	0.87[EUR][1000 genomes]
rs3748581	0.88[ASN][1000 genomes]
rs3762286	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3762287	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3762288	0.93[ASN][1000 genomes]
rs4845934	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4846213	0.87[EUR][1000 genomes]
rs4846216	0.88[ASN][1000 genomes]
rs4846218	0.82[ASN][1000 genomes]
rs4846219	0.93[ASN][1000 genomes]
rs4846221	0.95[ASN][1000 genomes]
rs58014725	0.95[ASN][1000 genomes]
rs58053556	0.82[EUR][1000 genomes]
rs60743860	0.83[EUR][1000 genomes]
rs61778376	0.87[EUR][1000 genomes]
rs61778399	0.86[EUR][1000 genomes]
rs61778401	0.89[EUR][1000 genomes]
rs61778402	0.81[EUR][1000 genomes]
rs61778403	0.87[EUR][1000 genomes]
rs61778404	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6541094	0.96[ASN][1000 genomes]
rs6674843	0.82[EUR][1000 genomes]
rs6674949	0.88[ASN][1000 genomes]
rs6682868	0.88[ASN][1000 genomes]
rs746881	0.83[EUR][1000 genomes]
rs7530167	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs912961	0.83[EUR][1000 genomes]
rs9651117	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34045426	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10460000-10490200	Weak transcription	Psoas Muscle	Psoas
2	chr1:10460200-10475400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:10460400-10472800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:10460400-10475200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:10460600-10481200	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr1:10460800-10468800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:10460800-10480400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:10460800-10482000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:10460800-10482400	Strong transcription	Fetal Stomach	stomach
10	chr1:10460800-10483400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:10461000-10474600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:10461000-10475200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:10461000-10476800	Weak transcription	Fetal Heart	heart
14	chr1:10461000-10482000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:10461200-10482000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:10461200-10482000	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:10461200-10490000	Weak transcription	Right Atrium	heart
18	chr1:10461400-10475200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:10461400-10483000	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:10461400-10483000	Strong transcription	Fetal Intestine Small	intestine
21	chr1:10461400-10483400	Strong transcription	Fetal Muscle Trunk	muscle
22	chr1:10461600-10481800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:10461600-10482800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:10461800-10472800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:10461800-10473600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:10461800-10473600	Strong transcription	Primary hematopoietic stem cells	blood
27	chr1:10461800-10473600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:10461800-10473600	Strong transcription	Rectal Smooth Muscle	rectum
29	chr1:10461800-10474200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:10461800-10475200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:10461800-10482000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:10461800-10482000	Strong transcription	Dnd41	blood
33	chr1:10462000-10473000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr1:10462000-10475200	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr1:10462000-10482000	Strong transcription	Fetal Intestine Large	intestine
36	chr1:10462000-10482200	Strong transcription	Brain Germinal Matrix	brain
37	chr1:10462000-10483000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:10462200-10473200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:10462200-10475000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:10462200-10475200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:10462200-10475400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:10462200-10475400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:10462200-10481600	Strong transcription	Liver	Liver
44	chr1:10462200-10481600	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:10462200-10482000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:10462200-10483200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:10462400-10470000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:10462400-10476000	Strong transcription	Ovary	ovary
49	chr1:10462600-10473600	Strong transcription	Esophagus	oesophagus
50	chr1:10462600-10482000	Strong transcription	Duodenum Mucosa	Duodenum

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