Variant report

Variant	rs2296545
Chromosome Location	chr10:90342837-90342838
allele	C/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	TCF12	chr10:90342301-90343540	A549	lung:	n/a	n/a
2	POLR2A	chr10:90342465-90343362	GM12892	blood:	n/a	n/a
3	FOXM1	chr10:90342500-90343336	GM12878	blood:	n/a	n/a
4	CREB1	chr10:90342512-90343170	A549	lung:	n/a	n/a
5	MAX	chr10:90342455-90343330	H1-hESC	embryonic stem cell:	n/a	chr10:90342538-90342548 chr10:90342660-90342669 chr10:90342661-90342670 chr10:90342661-90342670 chr10:90342659-90342672
6	POLR2A	chr10:90342496-90343267	A549	lung:	n/a	n/a
7	MAX	chr10:90342398-90343362	A549	lung:	n/a	chr10:90342538-90342548 chr10:90342660-90342669 chr10:90342661-90342670 chr10:90342661-90342670 chr10:90342659-90342672
8	CTCF	chr10:90342689-90343258	Fibrobl	skin:	n/a	chr10:90343091-90343109 chr10:90343094-90343107
9	TAF1	chr10:90342501-90342979	A549	lung:	n/a	n/a
10	POLR2A	chr10:90342433-90343335	GM18951	blood:	n/a	n/a
11	CTCF	chr10:90342695-90343262	Gliobla	brain:	n/a	chr10:90343091-90343109 chr10:90343094-90343107
12	STAT5A	chr10:90342646-90343080	GM12878	blood:	n/a	n/a
13	POLR2A	chr10:90342447-90343340	GM18505	blood:	n/a	n/a
14	MAX	chr10:90342497-90343407	H1-hESC	embryonic stem cell:	n/a	chr10:90342538-90342548 chr10:90342660-90342669 chr10:90342661-90342670 chr10:90342661-90342670 chr10:90342659-90342672
15	CTCF	chr10:90342740-90342890	A549	lung:	n/a	n/a
16	RELA	chr10:90342472-90343334	GM19193	blood:	n/a	n/a
17	MYC	chr10:90342734-90342850	GM12878	blood:	n/a	n/a
18	CTCF	chr10:90342725-90343252	MCF-7	breast:	n/a	chr10:90343091-90343109 chr10:90343094-90343107
19	POLR2A	chr10:90342577-90343161	GM12892	blood:	n/a	n/a
20	TCF3	chr10:90342747-90343004	GM12878	blood:	n/a	n/a
21	MAX	chr10:90342588-90342892	K562	blood:	n/a	chr10:90342660-90342669 chr10:90342661-90342670 chr10:90342661-90342670 chr10:90342659-90342672
22	USF1	chr10:90342429-90342887	A549	lung:	n/a	chr10:90342661-90342670 chr10:90342661-90342670 chr10:90342659-90342672 chr10:90342662-90342671
23	TAF1	chr10:90342617-90342967	GM12891	blood:	n/a	n/a
24	MAX	chr10:90342272-90343058	GM12878	blood:	n/a	chr10:90342538-90342548 chr10:90342660-90342669 chr10:90342661-90342670 chr10:90342661-90342670 chr10:90342659-90342672
25	POLR2A	chr10:90342576-90343018	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr10:90342395-90343076	MCF-7	breast:	n/a	chr10:90342538-90342548 chr10:90342660-90342669 chr10:90342661-90342670 chr10:90342661-90342670 chr10:90342659-90342672
27	POLR2A	chr10:90342490-90343097	GM12878	blood:	n/a	n/a
28	CREB1	chr10:90342493-90343248	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr10:90342484-90343321	GM12878	blood:	n/a	n/a
30	ZEB1	chr10:90342449-90343101	GM12878	blood:	n/a	n/a
31	RUNX3	chr10:90342485-90343422	GM12878	blood:	n/a	n/a
32	USF2	chr10:90342406-90343243	GM12878	blood:	n/a	chr10:90342661-90342670 chr10:90342661-90342670 chr10:90342659-90342672 chr10:90342662-90342671
33	CTCF	chr10:90342661-90342872	Kidney_OC	kidney:	n/a	n/a
34	USF1	chr10:90342505-90342984	GM12878	blood:	n/a	chr10:90342661-90342670 chr10:90342661-90342670 chr10:90342659-90342672 chr10:90342662-90342671
35	NFIC	chr10:90342480-90342956	GM12878	blood:	n/a	n/a
36	CHD2	chr10:90342562-90343360	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr10:90342531-90343318	HL-60	blood:	n/a	n/a
38	POLR2A	chr10:90342508-90343245	GM10847	blood:	n/a	n/a
39	CTCF	chr10:90342696-90343253	GM19238	blood:	n/a	chr10:90343091-90343109 chr10:90343094-90343107
40	ELK1	chr10:90342399-90343229	GM12878	blood:	n/a	n/a
41	POLR2A	chr10:90342563-90343274	GM12878	blood:	n/a	n/a
42	POLR2A	chr10:90342580-90343009	GM12891	blood:	n/a	n/a
43	CTCF	chr10:90342748-90343275	GM19240	blood:	n/a	chr10:90343091-90343109 chr10:90343094-90343107
44	PML	chr10:90342593-90342856	GM12878	blood:	n/a	n/a
45	E2F6	chr10:90342436-90342962	A549	lung:	n/a	n/a
46	BCLAF1	chr10:90342505-90343467	GM12878	blood:	n/a	chr10:90343114-90343127
47	E2F6	chr10:90342409-90343473	H1-hESC	embryonic stem cell:	n/a	chr10:90343369-90343378 chr10:90343100-90343112
48	ELF1	chr10:90342342-90343278	GM12878	blood:	n/a	n/a
49	CTCF	chr10:90342700-90342850	HUVEC	blood vessel:	n/a	n/a
50	USF2	chr10:90342359-90343029	H1-hESC	embryonic stem cell:	n/a	chr10:90342661-90342670 chr10:90342661-90342670 chr10:90342659-90342672 chr10:90342662-90342671

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:90342814-90342864	K562	blood:	n/a
2	chr10:90342814-90342864	HCPEpiC	choroid plexus:	n/a
3	chr10:90342814-90342864	A549	lung:	n/a
4	chr10:90342814-90342864	AG09309	skin:	n/a
5	chr10:90342814-90342864	NB4	blood:	n/a
6	chr10:90342814-90342864	ProgFib	skin:	n/a
7	chr10:90342814-90342864	AG09319	gingival:	n/a
8	chr10:90342814-90342864	SAEC	small airway:	n/a
9	chr10:90342814-90342864	HUVEC	blood vessel:	n/a
10	chr10:90342814-90342864	NHDF-neo	bronchial:	n/a
11	chr10:90342814-90342864	GM06990	blood:	n/a
12	chr10:90342814-90342864	PrEC	prostate:	n/a
13	chr10:90342814-90342864	NHBE	bronchial:	n/a
14	chr10:90342814-90342864	HPAEpiC	pulmonary alveolar:	n/a
15	chr10:90342814-90342864	BJ	skin:	n/a
16	chr10:90342814-90342864	HRCEpiC	kidney:	n/a
17	chr10:90342814-90342864	HAEpiC	amniotic membrane:	n/a
18	chr10:90342814-90342864	GM12891	blood:	n/a
19	chr10:90342814-90342864	HEEpiC	esophagus:	n/a
20	chr10:90342814-90342864	HNPCEpiC	eye:	n/a
21	chr10:90342814-90342864	HMEC	breast:	n/a
22	chr10:90342814-90342864	SKMC	muscle:	n/a
23	chr10:90342814-90342864	NH-A	brain:	n/a
24	chr10:90342814-90342864	SK-N-SH	brain:	n/a
25	chr10:90342814-90342864	U87	brain:	n/a
26	chr10:90342814-90342864	HIPEpiC	eye:	n/a
27	chr10:90342814-90342864	Jurkat	blood:	n/a
28	chr10:90342814-90342864	MCF-7	breast:	n/a
29	chr10:90342814-90342864	HCM	heart:	n/a
30	chr10:90342814-90342864	LNCaP	prostate:	n/a
31	chr10:90342814-90342864	AG04450	lung:	fetal
32	chr10:90342814-90342864	CMK	blood:	n/a
33	chr10:90342814-90342864	HRE	kidney:	n/a
34	chr10:90342814-90342864	ECC-1	luminal epithelium:	n/a
35	chr10:90342814-90342864	PANC-1	pancreas:	n/a
36	chr10:90342814-90342864	HCT-116	colon:	n/a
37	chr10:90342814-90342864	PFSK-1	brain:	n/a
38	chr10:90342814-90342864	HRPEpiC	eye:	n/a
39	chr10:90342814-90342864	RPTEC	kidney:	n/a
40	chr10:90342814-90342864	SK-N-SH_RA	brain:	n/a
41	chr10:90342814-90342864	HepG2	liver:	n/a
42	chr10:90342814-90342864	AoSMC	blood vessel:	n/a
43	chr10:90342814-90342864	NT2-D1	testis:	n/a
44	chr10:90342814-90342864	SK-N-MC	brain:	n/a
45	chr10:90342814-90342864	GM12892	blood:	n/a
46	chr10:90342814-90342864	H1-hESC	embryonic stem cell:	embryo
47	chr10:90342814-90342864	Hela-S3	cervix:	n/a
48	chr10:90342814-90342864	Caco-2	colon:	n/a
49	chr10:90342814-90342864	BE2_C	brain:	n/a
50	chr10:90342814-90342864	ovcar-3	ovarian:	n/a

Variant related genes	Relation type
LIPJ	TF binding region
LIPJ	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10749594	0.82[EUR][1000 genomes]
rs10788608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10887837	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10887839	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10887840	1.00[JPT][hapmap]
rs10887841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10887843	0.81[EUR][1000 genomes]
rs11202781	0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1409137	0.92[CHB][hapmap];0.95[JPT][hapmap]
rs1555841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2274312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2576168	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2576178	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2765446	0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2765452	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs7476392	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7912280	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948664	chr10:90076715-90517150	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv430254	chr10:90265420-90500520	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1044680	chr10:90316066-90466092	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv540740	chr10:90316066-90466092	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1037657	chr10:90329910-90367890	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv551839	chr10:90334835-90422136	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90341800-90343600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr10:90341800-90343800	Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr10:90341800-90343800	Active TSS	Stomach Smooth Muscle	stomach
4	chr10:90342000-90343600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:90342000-90343600	Active TSS	Fetal Lung	lung
6	chr10:90342000-90343800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:90342000-90343800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr10:90342000-90343800	Active TSS	Rectal Smooth Muscle	rectum
9	chr10:90342000-90343800	Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr10:90342200-90343200	Active TSS	Primary T cells from cord blood	blood
11	chr10:90342200-90343200	Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr10:90342200-90343200	Active TSS	Adipose Nuclei	Adipose
13	chr10:90342200-90343200	Active TSS	Fetal Brain Male	brain
14	chr10:90342200-90343200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr10:90342200-90343200	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr10:90342200-90343400	Active TSS	Brain Hippocampus Middle	brain
17	chr10:90342200-90343400	Active TSS	Duodenum Mucosa	Duodenum
18	chr10:90342200-90343400	Active TSS	K562	blood
19	chr10:90342200-90343600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr10:90342200-90343600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:90342200-90343600	Active TSS	Brain Angular Gyrus	brain
22	chr10:90342200-90343600	Active TSS	Brain Germinal Matrix	brain
23	chr10:90342200-90343600	Active TSS	Fetal Intestine Large	intestine
24	chr10:90342200-90343600	Active TSS	Thymus	Thymus
25	chr10:90342200-90343800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr10:90342200-90343800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr10:90342200-90343800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr10:90342200-90343800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr10:90342200-90343800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:90342200-90343800	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr10:90342200-90343800	Active TSS	Fetal Brain Female	brain
32	chr10:90342200-90343800	Active TSS	Fetal Kidney	kidney
33	chr10:90342200-90343800	Active TSS	Right Atrium	heart
34	chr10:90342200-90343800	Active TSS	A549	lung
35	chr10:90342200-90343800	Active TSS	NHDF-Ad	bronchial
36	chr10:90342200-90344000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr10:90342400-90343000	Active TSS	Primary B cells from peripheral blood	blood
38	chr10:90342400-90343000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:90342400-90343000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr10:90342400-90343200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:90342400-90343200	Active TSS	Primary monocytes fromperipheralblood	blood
42	chr10:90342400-90343200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:90342400-90343200	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr10:90342400-90343200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr10:90342400-90343200	Active TSS	Muscle Satellite Cultured Cells	--
46	chr10:90342400-90343200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:90342400-90343200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:90342400-90343200	Active TSS	Liver	Liver
49	chr10:90342400-90343200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr10:90342400-90343200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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