Variant report

Variant	rs1889894
Chromosome Location	chr10:94350507-94350508
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	MAX	chr10:94350340-94350779	K562	blood:	n/a	n/a
3	CUX1	chr10:94350149-94350933	K562	blood:	n/a	n/a
4	RAD21	chr10:94350311-94351006	HCT-116	colon:	n/a	chr10:94350630-94350649
5	ARID3A	chr10:94350505-94350790	HepG2	liver:	n/a	n/a
6	CTCF	chr10:94350480-94350630	HUVEC	blood vessel:	n/a	n/a
7	RAD21	chr10:94350506-94350796	H1-hESC	embryonic stem cell:	n/a	chr10:94350630-94350649
8	MAZ	chr10:94350480-94350942	HepG2	liver:	n/a	chr10:94350784-94350793
9	GATA3	chr10:94350301-94350758	T-47D	breast:	n/a	n/a
10	CTCF	chr10:94350007-94352200	A549	lung:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
11	WRNIP1	chr10:94350392-94350761	GM12878	blood:	n/a	n/a
12	RAD21	chr10:94350418-94350837	HepG2	liver:	n/a	chr10:94350630-94350649
13	RAD21	chr10:94350428-94350844	IMR90	lung:	n/a	chr10:94350630-94350649
14	CTCF	chr10:94350439-94350845	HepG2	liver:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
15	CTCF	chr10:94350457-94350873	K562	blood:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
16	MAZ	chr10:94350338-94350875	IMR90	lung:	n/a	chr10:94350784-94350793
17	TBL1XR1	chr10:94350423-94350757	K562	blood:	n/a	n/a
18	MYC	chr10:94350358-94350869	K562	blood:	n/a	chr10:94350784-94350793
19	CTCF	chr10:94350403-94350934	MCF-7	breast:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
20	HDAC2	chr10:94350497-94350872	HepG2	liver:	n/a	n/a
21	MXI1	chr10:94350444-94351848	GM12878	blood:	n/a	n/a
22	SMC3	chr10:94350419-94350805	HepG2	liver:	n/a	chr10:94350631-94350645
23	MAZ	chr10:94350348-94350874	K562	blood:	n/a	chr10:94350784-94350793
24	GTF2F1	chr10:94350446-94351857	Hela-S3	cervix:	n/a	n/a
25	RAD21	chr10:94350433-94350849	A549	lung:	n/a	chr10:94350630-94350649
26	TEAD4	chr10:94350304-94350835	K562	blood:	n/a	n/a
27	TBL1XR1	chr10:94350438-94350824	K562	blood:	n/a	n/a
28	RCOR1	chr10:94350402-94350819	K562	blood:	n/a	n/a
29	CTCF	chr10:94350325-94351036	SK-N-SH	brain:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
30	TEAD4	chr10:94350395-94350864	K562	blood:	n/a	n/a
31	POLR2A	chr10:94350096-94354204	GM12891	blood:	n/a	n/a
32	RAD21	chr10:94350507-94350784	K562	blood:	n/a	chr10:94350630-94350649
33	GATA2	chr10:94350309-94350844	SH-SY5Y	brain:	n/a	n/a
34	GATA2	chr10:94350265-94350713	K562	blood:	n/a	n/a
35	POLR2A	chr10:94350405-94354257	PBDE	blood:	n/a	n/a
36	MAZ	chr10:94350506-94350836	Hela-S3	cervix:	n/a	chr10:94350784-94350793
37	CTCF	chr10:94350500-94350650	GM12872	blood:	n/a	chr10:94350632-94350645 chr10:94350629-94350647
38	RAD21	chr10:94350461-94350782	GM12878	blood:	n/a	chr10:94350630-94350649
39	CTCF	chr10:94350500-94350650	AG04450	lung:	n/a	chr10:94350632-94350645 chr10:94350629-94350647
40	TAL1	chr10:94350462-94350947	K562	blood:	n/a	n/a
41	CTCF	chr10:94350463-94350856	A549	lung:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
42	GATA3	chr10:94350318-94350620	SH-SY5Y	brain:	n/a	n/a
43	POLR2A	chr10:94350433-94353351	K562	blood:	n/a	n/a
44	MAX	chr10:94350351-94352147	A549	lung:	n/a	chr10:94350784-94350793
45	CTCF	chr10:94350385-94351089	HCT-116	colon:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
46	CTCF	chr10:94350425-94350836	IMR90	lung:	n/a	chr10:94350632-94350645 chr10:94350631-94350652 chr10:94350629-94350647
47	NR2F2	chr10:94350237-94350836	K562	blood:	n/a	n/a
48	POLR2A	chr10:94350371-94353159	GM12878	blood:	n/a	n/a
49	POLR2A	chr10:94350242-94350890	K562	blood:	n/a	n/a
50	CTCF	chr10:94350458-94350794	H1-hESC	embryonic stem cell:	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	chr10:94349845..94352278-chr10:94364574..94366521,2	K562	blood:
4	chr10:94346330..94348622-chr10:94350152..94352850,4	MCF-7	breast:
5	chr10:94350490..94352733-chr10:94357545..94360225,2	MCF-7	breast:
6	chr10:94350251..94350770-chr10:94640073..94640678,2	MCF-7	breast:
7	chr10:94327650..94337583-chr10:94349444..94356782,22	K562	blood:
8	chr10:94348631..94351976-chr10:94517080..94521274,3	K562	blood:
9	chr10:94349285..94352035-chr10:94353107..94354647,2	K562	blood:
10	chr10:94349914..94352600-chr10:94405962..94408732,2	MCF-7	breast:
11	chr10:94349678..94351627-chr10:94428534..94430567,2	K562	blood:
12	chr10:94349533..94356622-chr10:94447410..94453498,11	K562	blood:
13	chr10:94349663..94351674-chr10:94454705..94456287,2	K562	blood:
14	chr10:94350021..94352596-chr10:94356873..94358972,3	MCF-7	breast:
15	chr10:94332407..94336018-chr10:94349212..94353201,7	MCF-7	breast:
16	chr10:94349533..94354628-chr10:94448059..94453493,12	K562	blood:
17	chr10:94332262..94336114-chr10:94349834..94354042,11	MCF-7	breast:
18	chr10:94231625..94235383-chr10:94350163..94352674,3	MCF-7	breast:

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

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11813643	1.00[EUR][1000 genomes]
rs11813799	1.00[EUR][1000 genomes]
rs11814521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11815736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11817277	1.00[EUR][1000 genomes]
rs11819282	1.00[EUR][1000 genomes]
rs12267150	1.00[EUR][1000 genomes]
rs1578672	1.00[EUR][1000 genomes]
rs28590736	1.00[EUR][1000 genomes]
rs55770900	1.00[EUR][1000 genomes]
rs56057066	1.00[EUR][1000 genomes]
rs56143704	1.00[EUR][1000 genomes]
rs56310806	1.00[EUR][1000 genomes]
rs57298326	1.00[EUR][1000 genomes]
rs58619531	1.00[EUR][1000 genomes]
rs59489651	1.00[EUR][1000 genomes]
rs61274524	1.00[EUR][1000 genomes]
rs61451715	1.00[EUR][1000 genomes]
rs6583818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7067733	1.00[EUR][1000 genomes]
rs7069538	1.00[EUR][1000 genomes]
rs7073957	1.00[EUR][1000 genomes]
rs7082686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7087423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7098638	1.00[EUR][1000 genomes]
rs7100035	1.00[EUR][1000 genomes]
rs7100357	1.00[EUR][1000 genomes]
rs73311745	1.00[EUR][1000 genomes]
rs73311751	1.00[EUR][1000 genomes]
rs73311753	1.00[EUR][1000 genomes]
rs74149127	1.00[EUR][1000 genomes]
rs7893352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7896688	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7898027	1.00[EUR][1000 genomes]
rs7910569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7911751	1.00[EUR][1000 genomes]
rs7913315	1.00[EUR][1000 genomes]
rs7915349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7916011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7917817	1.00[AMR][1000 genomes];1.00[EUR][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94348200-94351800	Weak transcription	Small Intestine	intestine
2	chr10:94349800-94350600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr10:94350000-94350600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr10:94350000-94350600	Enhancers	Hela-S3	cervix
5	chr10:94350000-94350800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:94350000-94350800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr10:94350000-94350800	Enhancers	Primary hematopoietic stem cells	blood
8	chr10:94350000-94350800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr10:94350000-94350800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:94350000-94350800	Enhancers	Fetal Muscle Leg	muscle
11	chr10:94350000-94350800	Enhancers	HMEC	breast
12	chr10:94350200-94350600	Enhancers	Primary B cells from cord blood	blood
13	chr10:94350200-94350600	Weak transcription	Colon Smooth Muscle	Colon
14	chr10:94350200-94350600	Enhancers	Dnd41	blood
15	chr10:94350200-94350600	Flanking Active TSS	GM12878-XiMat	blood
16	chr10:94350200-94350600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr10:94350200-94350800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr10:94350200-94350800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr10:94350200-94350800	Enhancers	Fetal Heart	heart
20	chr10:94350200-94351200	Flanking Active TSS	A549	lung
21	chr10:94350400-94350600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr10:94350400-94350600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr10:94350400-94350600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr10:94350400-94350600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr10:94350400-94350600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr10:94350400-94350600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr10:94350400-94350600	Enhancers	Brain Angular Gyrus	brain
28	chr10:94350400-94350600	Enhancers	Fetal Intestine Large	intestine
29	chr10:94350400-94350600	Flanking Active TSS	HepG2	liver
30	chr10:94350400-94350600	Flanking Active TSS	K562	blood
31	chr10:94350400-94350600	Active TSS	Osteobl	bone
32	chr10:94350400-94350800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr10:94350400-94350800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:94350400-94350800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr10:94350400-94350800	Enhancers	Primary B cells from peripheral blood	blood
36	chr10:94350400-94350800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr10:94350400-94350800	Enhancers	Brain Anterior Caudate	brain
38	chr10:94350400-94350800	Enhancers	Brain Germinal Matrix	brain
39	chr10:94350400-94350800	Active TSS	Brain Hippocampus Middle	brain
40	chr10:94350400-94350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr10:94350400-94350800	Enhancers	Fetal Thymus	thymus
42	chr10:94350400-94350800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr10:94350400-94350800	Enhancers	NH-A	brain
44	chr10:94350400-94350800	Enhancers	NHEK	skin
45	chr10:94350400-94351000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:94350400-94351000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr10:94350400-94351000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr10:94350400-94351000	Enhancers	NHDF-Ad	bronchial
49	chr10:94350400-94351200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr10:94350400-94351200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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