Variant report

Variant	rs35759975
Chromosome Location	chr1:10474430-10474431
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:10474092-10475872	A549	lung:	n/a	n/a
2	TCF12	chr1:10474064-10474932	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10474196..10477325-chr1:10477463..10484153,8	K562	blood:
2	chr1:10457797..10461098-chr1:10474071..10478087,9	K562	blood:
3	chr1:10473791..10476777-chr1:10490511..10492354,2	K562	blood:
4	chr1:10473903..10475499-chr1:10533435..10536154,2	K562	blood:
5	chr1:10474109..10477987-chr1:10478782..10481616,9	K562	blood:
6	chr1:9969356..9971879-chr1:10474323..10477073,2	K562	blood:

No data

Variant related genes	Relation type
PGD	TF binding region
ENSG00000178585	Chromatin interaction
ENSG00000175279	Chromatin interaction
ENSG00000142657	Chromatin interaction
ENSG00000271989	Chromatin interaction
ENSG00000142655	Chromatin interaction
ENSG00000251503	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1002076	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10492973	0.84[EUR][1000 genomes]
rs11121539	0.83[EUR][1000 genomes]
rs11121551	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11121555	0.86[ASN][1000 genomes]
rs11121557	0.90[ASN][1000 genomes]
rs11121560	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11121561	0.94[ASN][1000 genomes]
rs11121563	0.96[ASN][1000 genomes]
rs11121566	0.97[ASN][1000 genomes]
rs1138791	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11576384	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11579365	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585794	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11586842	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11587309	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11587495	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11587854	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12118323	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130563	0.81[ASN][1000 genomes]
rs12131441	0.81[ASN][1000 genomes]
rs12139981	0.84[EUR][1000 genomes]
rs12141201	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12403465	0.85[EUR][1000 genomes]
rs12409754	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12409933	0.84[EUR][1000 genomes]
rs12725210	0.85[EUR][1000 genomes]
rs12738317	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12746471	0.97[ASN][1000 genomes]
rs12755363	0.82[AMR][1000 genomes]
rs1536262	0.90[ASN][1000 genomes]
rs1556916	0.84[EUR][1000 genomes]
rs1556917	0.83[EUR][1000 genomes]
rs2148152	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2182326	0.83[EUR][1000 genomes]
rs2229687	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236678	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34045426	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34075302	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34636442	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35716098	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35811280	0.89[ASN][1000 genomes]
rs3737155	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3748579	0.80[ASN][1000 genomes]
rs3748581	0.91[ASN][1000 genomes]
rs3762286	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762287	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3762288	0.96[ASN][1000 genomes]
rs4333852	0.83[EUR][1000 genomes]
rs4475756	0.83[EUR][1000 genomes]
rs4845934	0.84[AMR][1000 genomes]
rs4846216	0.90[ASN][1000 genomes]
rs4846218	0.84[ASN][1000 genomes]
rs4846219	0.96[ASN][1000 genomes]
rs4846221	0.97[ASN][1000 genomes]
rs58014725	0.97[ASN][1000 genomes]
rs61778399	0.81[ASN][1000 genomes]
rs61778401	0.81[ASN][1000 genomes]
rs61778402	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61778404	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6541089	0.84[EUR][1000 genomes]
rs6541094	0.96[ASN][1000 genomes]
rs6674949	0.90[ASN][1000 genomes]
rs6682868	0.90[ASN][1000 genomes]
rs7530167	0.84[AMR][1000 genomes]
rs7546364	0.85[EUR][1000 genomes]
rs7553935	0.80[EUR][1000 genomes]
rs9651117	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
8	esv1827009	chr1:10467074-10483456	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv1830329	chr1:10467074-10483456	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv1831760	chr1:10467074-10483456	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv1836264	chr1:10473200-10483456	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35759975	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	chr1:10460400-10475200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:10460600-10481200	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr1:10460800-10480400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:10460800-10482000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:10460800-10482400	Strong transcription	Fetal Stomach	stomach
8	chr1:10460800-10483400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:10461000-10474600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:10461000-10475200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:10461000-10476800	Weak transcription	Fetal Heart	heart
12	chr1:10461000-10482000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:10461200-10482000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:10461200-10482000	Strong transcription	Fetal Muscle Leg	muscle
15	chr1:10461200-10490000	Weak transcription	Right Atrium	heart
16	chr1:10461400-10475200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:10461400-10483000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:10461400-10483000	Strong transcription	Fetal Intestine Small	intestine
19	chr1:10461400-10483400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:10461600-10481800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:10461600-10482800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:10461800-10475200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:10461800-10482000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:10461800-10482000	Strong transcription	Dnd41	blood
25	chr1:10462000-10475200	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr1:10462000-10482000	Strong transcription	Fetal Intestine Large	intestine
27	chr1:10462000-10482200	Strong transcription	Brain Germinal Matrix	brain
28	chr1:10462000-10483000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:10462200-10475000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:10462200-10475200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:10462200-10475400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:10462200-10475400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:10462200-10481600	Strong transcription	Liver	Liver
34	chr1:10462200-10481600	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:10462200-10482000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:10462200-10483200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:10462400-10476000	Strong transcription	Ovary	ovary
38	chr1:10462600-10482000	Strong transcription	Duodenum Mucosa	Duodenum
39	chr1:10462800-10474800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:10462800-10475200	Strong transcription	Placenta	Placenta
41	chr1:10462800-10478200	Strong transcription	Fetal Lung	lung
42	chr1:10462800-10478400	Strong transcription	Brain Angular Gyrus	brain
43	chr1:10462800-10480400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:10462800-10481600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr1:10462800-10481600	Strong transcription	GM12878-XiMat	blood
46	chr1:10462800-10482200	Strong transcription	Thymus	Thymus
47	chr1:10462800-10482600	Strong transcription	Brain Anterior Caudate	brain
48	chr1:10462800-10483400	Strong transcription	Fetal Brain Female	brain
49	chr1:10463000-10475200	Strong transcription	Adipose Nuclei	Adipose
50	chr1:10463000-10476000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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