Variant report

Variant	rs3824735
Chromosome Location	chr10:94354204-94354205
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:94351268..94354735-chr10:94355145..94359396,3	K562	blood:
2	chr10:94330286..94336827-chr10:94349891..94354260,15	K562	blood:
3	chr10:94327650..94337583-chr10:94349444..94356782,22	K562	blood:
4	chr10:94349285..94352035-chr10:94353107..94354647,2	K562	blood:
5	chr10:94351156..94354361-chr10:94606648..94609927,3	MCF-7	breast:
6	chr10:94349533..94356622-chr10:94447410..94453498,11	K562	blood:
7	chr10:94353654..94355559-chr10:94371122..94372777,2	K562	blood:
8	chr10:94349533..94354628-chr10:94448059..94453493,12	K562	blood:
9	chr10:94353767..94355428-chr10:94415113..94417602,2	MCF-7	breast:
10	chr10:94353254..94355165-chr10:94355229..94358982,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138190	Chromatin interaction
ENSG00000152804	Chromatin interaction
ENSG00000184111	Chromatin interaction
ENSG00000119912	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1044153	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10509645	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.88[EUR][1000 genomes]
rs10882067	0.81[EUR][1000 genomes]
rs10882071	0.82[EUR][1000 genomes]
rs10882072	0.82[EUR][1000 genomes]
rs10882074	1.00[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.87[EUR][1000 genomes]
rs10882083	0.86[ASN][1000 genomes]
rs10882085	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10882092	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10882095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10882096	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882099	0.85[CHB][hapmap]
rs11187007	0.80[EUR][1000 genomes]
rs11187033	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs11187072	0.85[ASN][1000 genomes]
rs11187078	0.96[CEU][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11187090	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11187094	0.82[CHD][hapmap]
rs11187096	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11187098	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11187099	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11187107	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11187114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11187117	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12220493	0.85[ASN][1000 genomes]
rs12355158	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1573051	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972360	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2153827	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2421943	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2798253	0.91[CEU][hapmap];0.91[JPT][hapmap]
rs2901597	0.92[ASN][1000 genomes]
rs35978445	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3781241	0.80[EUR][1000 genomes]
rs7073833	0.84[ASN][1000 genomes]
rs7076966	0.86[ASN][1000 genomes]
rs7077418	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7078418	0.84[ASN][1000 genomes]
rs7099761	0.82[JPT][hapmap]
rs7921210	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3824735	KIF11	cis	cerebellum	SCAN
rs3824735	STAMBPL1	cis	cerebellum	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94350600-94354400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr10:94350600-94354800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:94350600-94355000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr10:94350600-94355200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:94350600-94355400	Active TSS	GM12878-XiMat	blood
6	chr10:94350600-94355600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr10:94350600-94355800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr10:94350800-94354800	Active TSS	Fetal Brain Female	brain
9	chr10:94350800-94355000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:94350800-94355600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:94350800-94355800	Active TSS	Thymus	Thymus
12	chr10:94351000-94354800	Active TSS	H1 Cell Line	embryonic stem cell
13	chr10:94351000-94354800	Active TSS	HSMM	muscle
14	chr10:94351000-94355000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr10:94351000-94355200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr10:94351000-94355600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr10:94351000-94356600	Active TSS	K562	blood
18	chr10:94351200-94354400	Active TSS	NHDF-Ad	bronchial
19	chr10:94351200-94354600	Active TSS	Duodenum Mucosa	Duodenum
20	chr10:94351200-94354600	Active TSS	Fetal Stomach	stomach
21	chr10:94351200-94354800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:94351200-94354800	Active TSS	Fetal Kidney	kidney
23	chr10:94351200-94354800	Active TSS	A549	lung
24	chr10:94351200-94355000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:94351200-94355000	Active TSS	Fetal Intestine Large	intestine
26	chr10:94351200-94355600	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr10:94351400-94354400	Active TSS	NHEK	skin
28	chr10:94351400-94354800	Active TSS	Fetal Intestine Small	intestine
29	chr10:94351400-94355000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr10:94352000-94354600	Active TSS	HMEC	breast
31	chr10:94352000-94354800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:94352000-94355200	Active TSS	Brain Germinal Matrix	brain
33	chr10:94352200-94354600	Active TSS	Fetal Thymus	thymus
34	chr10:94352200-94355400	Active TSS	Hela-S3	cervix
35	chr10:94352400-94354400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:94352400-94354400	Active TSS	Dnd41	blood
37	chr10:94352400-94355000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:94352600-94354400	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr10:94352600-94354800	Active TSS	Fetal Muscle Leg	muscle
40	chr10:94352600-94355000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:94352600-94355000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr10:94352600-94355000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr10:94352800-94354400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:94353200-94354800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr10:94353200-94354800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:94353200-94354800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr10:94353400-94355200	Active TSS	HepG2	liver
48	chr10:94353600-94354800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:94353600-94354800	Flanking Active TSS	HUVEC	blood vessel
50	chr10:94353600-94355800	Weak transcription	Primary T cells fromperipheralblood	blood

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