Variant report

Variant	rs2275729
Chromosome Location	chr10:94452430-94452431
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:94349533..94356622-chr10:94447410..94453498,11	K562	blood:
2	chr10:94349533..94354628-chr10:94448059..94453493,12	K562	blood:
3	chr10:94449603..94452740-chr10:94589464..94592452,3	K562	blood:
4	chr10:94448193..94452899-chr10:94604769..94609293,6	K562	blood:

Variant related genes	Relation type
ENSG00000138160	Chromatin interaction
ENSG00000138190	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11187109	0.84[YRI][hapmap]
rs11187111	0.84[YRI][hapmap]
rs11187112	0.82[YRI][hapmap]
rs11187126	0.92[MKK][hapmap];1.00[YRI][hapmap]
rs11187131	0.81[EUR][1000 genomes]
rs11187132	0.81[EUR][1000 genomes]
rs12247024	0.91[YRI][hapmap]
rs12251379	0.81[EUR][1000 genomes]
rs12256435	0.81[MKK][hapmap];0.84[YRI][hapmap]
rs12262390	0.92[MKK][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs12263166	0.81[EUR][1000 genomes]
rs17875337	0.82[ASN][1000 genomes]
rs1832195	0.86[CHB][hapmap]
rs2497312	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap]
rs41290176	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45589941	0.82[ASN][1000 genomes]
rs56061746	0.92[ASN][1000 genomes]
rs7081035	0.92[ASN][1000 genomes]
rs7081294	0.92[ASN][1000 genomes]
rs7081351	0.92[ASN][1000 genomes]
rs7081745	0.92[ASN][1000 genomes]
rs7099393	0.92[ASN][1000 genomes]
rs7899695	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	esv3446249	chr10:94374508-94549394	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv1837497	chr10:94392728-94452430	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv1794949	chr10:94392728-94465559	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv825517	chr10:94397149-94472509	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv825518	chr10:94403446-94467700	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1802456	chr10:94404824-94452430	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv895896	chr10:94429526-94460650	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv895897	chr10:94430068-94460650	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	esv1816823	chr10:94446041-94452430	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
12	esv1809105	chr10:94449235-94452430	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
13	esv1814996	chr10:94449235-94452430	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
14	esv1820053	chr10:94449235-94452430	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
15	esv1829131	chr10:94449235-94452430	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
16	esv1833890	chr10:94449235-94452430	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
17	esv1837511	chr10:94449235-94452430	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
18	esv1839370	chr10:94449235-94452430	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2275729	KIF11	cis	parietal	SCAN

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94448400-94452600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr10:94448400-94452600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
3	chr10:94448400-94452800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:94448800-94452600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:94449000-94452600	Active TSS	Lung	lung
6	chr10:94449000-94452600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
7	chr10:94449200-94452600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
8	chr10:94450400-94452600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
9	chr10:94450400-94452600	Active TSS	Right Ventricle	heart
10	chr10:94450600-94452600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr10:94450600-94455400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:94450600-94455400	Weak transcription	Aorta	Aorta
13	chr10:94450600-94455400	Weak transcription	Gastric	stomach
14	chr10:94450800-94452800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:94450800-94453000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr10:94450800-94453600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:94450800-94459000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr10:94451000-94455600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
19	chr10:94451200-94452600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr10:94451400-94452600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:94451400-94452600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
22	chr10:94451400-94452600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr10:94451400-94452600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr10:94451400-94452600	Bivalent/Poised TSS	Colonic Mucosa	Colon
25	chr10:94451600-94452600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr10:94451600-94452600	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
27	chr10:94451600-94452600	Transcr. at gene 5' and 3'	HepG2	liver
28	chr10:94451600-94452800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
29	chr10:94451600-94452800	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
30	chr10:94451600-94453000	Transcr. at gene 5' and 3'	A549	lung
31	chr10:94451800-94452600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:94451800-94452600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
33	chr10:94451800-94452600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr10:94451800-94452600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr10:94451800-94452800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr10:94451800-94452800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
37	chr10:94451800-94453200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
38	chr10:94451800-94453600	Flanking Active TSS	Liver	Liver
39	chr10:94451800-94457600	Weak transcription	Dnd41	blood
40	chr10:94452000-94452600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:94452000-94452600	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr10:94452000-94452800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:94452000-94452800	Enhancers	Hela-S3	cervix
44	chr10:94452000-94453200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:94452000-94454000	Active TSS	K562	blood
46	chr10:94452200-94452600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr10:94452200-94452600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:94452200-94452600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr10:94452200-94452600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr10:94452200-94452800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood

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