Variant report

Variant	rs61775874
Chromosome Location	chr1:10279348-10279349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10278325..10279914-chr1:10289402..10290960,2	K562	blood:
2	chr1:10272332..10273838-chr1:10278117..10280308,2	K562	blood:
3	chr1:10269360..10271630-chr1:10278085..10280674,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054523	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1013952	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1013953	0.81[ASN][1000 genomes]
rs10492969	0.82[ASN][1000 genomes]
rs10492971	0.80[ASN][1000 genomes]
rs10492972	0.80[ASN][1000 genomes]
rs10864448	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10864449	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11121535	0.81[EUR][1000 genomes]
rs11576459	0.81[ASN][1000 genomes]
rs11580854	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11582123	0.83[ASN][1000 genomes]
rs11584023	0.83[ASN][1000 genomes]
rs12117635	0.83[ASN][1000 genomes]
rs12120042	0.80[ASN][1000 genomes]
rs12120191	0.80[ASN][1000 genomes]
rs12122029	0.81[ASN][1000 genomes]
rs12125535	0.80[ASN][1000 genomes]
rs12127604	0.80[ASN][1000 genomes]
rs12133617	0.82[ASN][1000 genomes]
rs12136404	0.80[ASN][1000 genomes]
rs12141416	0.81[ASN][1000 genomes]
rs12406943	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12409137	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12728071	0.80[AMR][1000 genomes]
rs12737239	0.80[ASN][1000 genomes]
rs12757288	0.80[ASN][1000 genomes]
rs1538557	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17034643	0.81[ASN][1000 genomes]
rs2027327	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2027328	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2027329	0.85[AMR][1000 genomes]
rs2027330	0.83[ASN][1000 genomes]
rs2039778	0.80[ASN][1000 genomes]
rs2105212	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34565762	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35850116	0.83[ASN][1000 genomes]
rs4240911	0.83[ASN][1000 genomes]
rs4529713	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4845931	0.81[ASN][1000 genomes]
rs4845932	0.81[EUR][1000 genomes]
rs4846197	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4846198	0.82[ASN][1000 genomes]
rs4846199	0.82[ASN][1000 genomes]
rs4846205	0.83[ASN][1000 genomes]
rs4846206	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4846207	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4846209	0.80[ASN][1000 genomes]
rs55676616	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61775872	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61775885	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61775887	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6541084	0.82[ASN][1000 genomes]
rs6541085	0.82[ASN][1000 genomes]
rs6685895	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6696056	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs746881	0.80[ASN][1000 genomes]
rs7524693	0.80[ASN][1000 genomes]
rs7524908	0.82[ASN][1000 genomes]
rs7553228	0.80[ASN][1000 genomes]
rs9332414	0.81[ASN][1000 genomes]
rs946501	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs946502	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs946503	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs946504	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv999251	chr1:10276263-10318163	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61775874	KIF1B	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10284000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:10272600-10284000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:10272800-10284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:10272800-10284400	Weak transcription	Gastric	stomach
6	chr1:10272800-10290000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:10272800-10296600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:10274000-10282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:10274000-10285200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:10274200-10284600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:10274600-10281200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:10276600-10281800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:10276800-10279800	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:10276800-10280000	Enhancers	Brain Substantia Nigra	brain
15	chr1:10276800-10311800	Weak transcription	Hela-S3	cervix
16	chr1:10277000-10279800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:10277000-10322000	Weak transcription	Spleen	Spleen
18	chr1:10278200-10285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:10278200-10285200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:10278400-10280600	Weak transcription	Ovary	ovary
21	chr1:10278400-10280600	Weak transcription	Right Ventricle	heart
22	chr1:10278400-10280800	Weak transcription	Lung	lung
23	chr1:10278400-10281200	Enhancers	Brain Hippocampus Middle	brain
24	chr1:10278400-10281600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:10278400-10282400	Weak transcription	Fetal Brain Female	brain
26	chr1:10278400-10283800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:10278400-10284400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:10278400-10285000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:10278400-10285000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:10278400-10285000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:10278400-10285000	Weak transcription	Aorta	Aorta
32	chr1:10278400-10285000	Weak transcription	Fetal Kidney	kidney
33	chr1:10278400-10285000	Weak transcription	HSMM	muscle
34	chr1:10278400-10285000	Weak transcription	NH-A	brain
35	chr1:10278400-10285200	Weak transcription	Pancreas	Pancrea
36	chr1:10278400-10291000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:10278400-10295200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:10278400-10302000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:10278600-10280200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:10278600-10282200	Weak transcription	Psoas Muscle	Psoas
41	chr1:10278600-10282600	Weak transcription	A549	lung
42	chr1:10278600-10283800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:10278600-10284400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:10278600-10284600	Weak transcription	Fetal Stomach	stomach
45	chr1:10278600-10285000	Weak transcription	Fetal Heart	heart
46	chr1:10278600-10294800	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr1:10278800-10280000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:10278800-10280000	Weak transcription	HepG2	liver
49	chr1:10278800-10280600	Weak transcription	Left Ventricle	heart
50	chr1:10278800-10280600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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