Variant report

Variant	rs12355158
Chromosome Location	chr10:94350681-94350682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:94350480-94353543	Raji	blood:	n/a	n/a
2	CTCF	chr10:94350540-94350690	GM12873	blood:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
3	MAX	chr10:94350340-94350779	K562	blood:	n/a	n/a
4	CTCF	chr10:94350540-94350690	HAc	cerebellar:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
5	CUX1	chr10:94350149-94350933	K562	blood:	n/a	n/a
6	CTCF	chr10:94350540-94350690	HMEC	breast:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
7	CTCF	chr10:94350580-94350730	HUVEC	blood vessel:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
8	RAD21	chr10:94350311-94351006	HCT-116	colon:	n/a	chr10:94350630-94350649
9	ARID3A	chr10:94350505-94350790	HepG2	liver:	n/a	n/a
10	POLR2A	chr10:94350532-94353421	GM12878	blood:	n/a	n/a
11	CTCF	chr10:94350580-94350730	HBMEC	blood vessel:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
12	RAD21	chr10:94350506-94350796	H1-hESC	embryonic stem cell:	n/a	chr10:94350630-94350649
13	MAZ	chr10:94350480-94350942	HepG2	liver:	n/a	chr10:94350784-94350793
14	GATA3	chr10:94350301-94350758	T-47D	breast:	n/a	n/a
15	CTCF	chr10:94350580-94350730	HMEC	breast:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
16	CTCF	chr10:94350560-94350710	NHDF-neo	bronchial:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
17	CTCF	chr10:94350007-94352200	A549	lung:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
18	CTCF	chr10:94350560-94350710	SK-N-SH_RA	brain:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
19	WRNIP1	chr10:94350392-94350761	GM12878	blood:	n/a	n/a
20	CTCF	chr10:94350580-94350730	BE2_C	brain:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
21	RAD21	chr10:94350418-94350837	HepG2	liver:	n/a	chr10:94350630-94350649
22	RAD21	chr10:94350428-94350844	IMR90	lung:	n/a	chr10:94350630-94350649
23	CTCF	chr10:94350560-94350710	AG04450	lung:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
24	CTCF	chr10:94350439-94350845	HepG2	liver:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
25	CTCF	chr10:94350457-94350873	K562	blood:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
26	MAZ	chr10:94350338-94350875	IMR90	lung:	n/a	chr10:94350784-94350793
27	TBL1XR1	chr10:94350423-94350757	K562	blood:	n/a	n/a
28	CTCF	chr10:94350583-94350732	MCF-7	breast:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
29	CTCF	chr10:94350540-94350690	HPF	lung:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
30	MYC	chr10:94350358-94350869	K562	blood:	n/a	chr10:94350784-94350793
31	CTCF	chr10:94350580-94350730	GM12868	blood:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
32	CTCF	chr10:94350580-94350730	RPTEC	kidney:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
33	MAX	chr10:94350566-94350807	HepG2	liver:	n/a	chr10:94350784-94350793
34	CTCF	chr10:94350580-94350730	GM12864	blood:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
35	CTCF	chr10:94350544-94350697	GM10248	blood:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
36	CTCF	chr10:94350600-94350750	HAc	cerebellar:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
37	TCF7L2	chr10:94350547-94351706	HCT-116	colon:	n/a	n/a
38	CTCF	chr10:94350403-94350934	MCF-7	breast:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
39	CTCF	chr10:94350580-94350730	HRPEpiC	eye:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
40	CTCF	chr10:94350580-94350730	HRE	kidney:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
41	CTCF	chr10:94350522-94350711	HUVEC	blood vessel:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
42	CTCF	chr10:94350560-94350710	HRPEpiC	eye:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
43	HDAC2	chr10:94350497-94350872	HepG2	liver:	n/a	n/a
44	CTCF	chr10:94350566-94350734	GM19240	blood:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
45	CTCF	chr10:94350580-94350730	HCPEpiC	choroid plexus:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
46	MXI1	chr10:94350444-94351848	GM12878	blood:	n/a	n/a
47	CTCF	chr10:94350540-94350690	GM12864	blood:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
48	CTCF	chr10:94350600-94350750	GM12865	blood:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
49	CTCF	chr10:94350540-94350690	AG04449	skin:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
50	CTCF	chr10:94350600-94350750	Hela-S3	cervix:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647

No.	Distal block	Cell Line	Cell type
1	chr10:94330286..94336827-chr10:94349891..94354260,15	K562	blood:
2	chr10:94341343..94347435-chr10:94348651..94352489,6	K562	blood:
3	chr10:94329944..94332046-chr10:94350652..94352961,2	MCF-7	breast:
4	chr10:94349845..94352278-chr10:94364574..94366521,2	K562	blood:
5	chr10:94346330..94348622-chr10:94350152..94352850,4	MCF-7	breast:
6	chr10:94350490..94352733-chr10:94357545..94360225,2	MCF-7	breast:
7	chr10:94350251..94350770-chr10:94640073..94640678,2	MCF-7	breast:
8	chr10:94327650..94337583-chr10:94349444..94356782,22	K562	blood:
9	chr10:94348631..94351976-chr10:94517080..94521274,3	K562	blood:
10	chr10:94349285..94352035-chr10:94353107..94354647,2	K562	blood:
11	chr10:94349914..94352600-chr10:94405962..94408732,2	MCF-7	breast:
12	chr10:94349678..94351627-chr10:94428534..94430567,2	K562	blood:
13	chr10:94349533..94356622-chr10:94447410..94453498,11	K562	blood:
14	chr10:94349663..94351674-chr10:94454705..94456287,2	K562	blood:
15	chr10:94350021..94352596-chr10:94356873..94358972,3	MCF-7	breast:
16	chr10:94332407..94336018-chr10:94349212..94353201,7	MCF-7	breast:
17	chr10:94350588..94352727-chr10:94492538..94494364,2	K562	blood:
18	chr10:94349533..94354628-chr10:94448059..94453493,12	K562	blood:
19	chr10:94332262..94336114-chr10:94349834..94354042,11	MCF-7	breast:
20	chr10:94231625..94235383-chr10:94350163..94352674,3	MCF-7	breast:

Variant related genes	Relation type
KIF11	TF binding region
ENSG00000184111	Chromatin interaction
ENSG00000119912	Chromatin interaction
ENSG00000152804	Chromatin interaction
ENSG00000236493	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1044153	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10509645	0.85[EUR][1000 genomes]
rs10882074	0.84[EUR][1000 genomes]
rs10882083	0.85[ASN][1000 genomes]
rs10882085	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882092	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882095	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10882096	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11187072	0.84[ASN][1000 genomes]
rs11187078	1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11187090	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11187096	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11187098	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11187099	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11187107	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11187114	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11187117	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12220493	0.84[ASN][1000 genomes]
rs1573051	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1972360	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2153827	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2421943	0.84[ASN][1000 genomes]
rs2901597	0.91[ASN][1000 genomes]
rs35978445	0.81[AMR][1000 genomes]
rs3824735	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7073833	0.84[ASN][1000 genomes]
rs7076966	0.85[ASN][1000 genomes]
rs7077418	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7078418	0.83[ASN][1000 genomes]
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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94348200-94351800	Weak transcription	Small Intestine	intestine
2	chr10:94350000-94350800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:94350000-94350800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:94350000-94350800	Enhancers	Primary hematopoietic stem cells	blood
5	chr10:94350000-94350800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr10:94350000-94350800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:94350000-94350800	Enhancers	Fetal Muscle Leg	muscle
8	chr10:94350000-94350800	Enhancers	HMEC	breast
9	chr10:94350200-94350800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:94350200-94350800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr10:94350200-94350800	Enhancers	Fetal Heart	heart
12	chr10:94350200-94351200	Flanking Active TSS	A549	lung
13	chr10:94350400-94350800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr10:94350400-94350800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:94350400-94350800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr10:94350400-94350800	Enhancers	Primary B cells from peripheral blood	blood
17	chr10:94350400-94350800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr10:94350400-94350800	Enhancers	Brain Anterior Caudate	brain
19	chr10:94350400-94350800	Enhancers	Brain Germinal Matrix	brain
20	chr10:94350400-94350800	Active TSS	Brain Hippocampus Middle	brain
21	chr10:94350400-94350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr10:94350400-94350800	Enhancers	Fetal Thymus	thymus
23	chr10:94350400-94350800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr10:94350400-94350800	Enhancers	NH-A	brain
25	chr10:94350400-94350800	Enhancers	NHEK	skin
26	chr10:94350400-94351000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:94350400-94351000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr10:94350400-94351000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr10:94350400-94351000	Enhancers	NHDF-Ad	bronchial
30	chr10:94350400-94351200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr10:94350400-94351200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr10:94350400-94351200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr10:94350400-94351400	Enhancers	Stomach Mucosa	stomach
34	chr10:94350400-94352600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr10:94350400-94353200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr10:94350600-94350800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:94350600-94350800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr10:94350600-94350800	Enhancers	Primary T cells from cord blood	blood
39	chr10:94350600-94350800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr10:94350600-94350800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr10:94350600-94350800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:94350600-94350800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:94350600-94350800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:94350600-94350800	Active TSS	Adipose Nuclei	Adipose
45	chr10:94350600-94350800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr10:94350600-94350800	Enhancers	Colonic Mucosa	Colon
47	chr10:94350600-94350800	Enhancers	Colon Smooth Muscle	Colon
48	chr10:94350600-94350800	Active TSS	Duodenum Mucosa	Duodenum
49	chr10:94350600-94350800	Enhancers	Fetal Kidney	kidney
50	chr10:94350600-94350800	Active TSS	Fetal Lung	lung

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