Variant report

Variant	rs189451652
Chromosome Location	chr10:49514193-49514194
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	POLR2A	chr10:49514189-49515353	GM19099	blood:	n/a	n/a
2	CHD2	chr10:49514191-49515418	Hela-S3	cervix:	n/a	n/a
3	USF1	chr10:49514148-49514657	SK-N-SH	brain:	n/a	chr10:49514447-49514463
4	FOXA1	chr10:49514171-49514831	T-47D	breast:	n/a	n/a
5	RAD21	chr10:49514082-49514578	H1-hESC	embryonic stem cell:	n/a	chr10:49514478-49514492
6	POLR2A	chr10:49514145-49515974	H1-neurons	neurons:	n/a	n/a
7	CREB1	chr10:49514135-49515002	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr10:49514102-49514852	A549	lung:	n/a	n/a
9	MAX	chr10:49514105-49514982	H1-hESC	embryonic stem cell:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
10	TCF12	chr10:49514122-49514543	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF3	chr10:49514185-49514967	GM12878	blood:	n/a	chr10:49514243-49514253 chr10:49514241-49514255
12	POLR2A	chr10:49514059-49515568	GM12892	blood:	n/a	n/a
13	MAX	chr10:49514126-49514607	SK-N-SH	brain:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
14	MAX	chr10:49514037-49515419	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
15	CBX3	chr10:49513931-49514887	K562	blood:	n/a	n/a
16	NR2F2	chr10:49514090-49514757	K562	blood:	n/a	n/a
17	EBF1	chr10:49513994-49514637	GM12878	blood:	n/a	chr10:49514433-49514443 chr10:49514434-49514443 chr10:49514432-49514443
18	WRNIP1	chr10:49514095-49514413	GM12878	blood:	n/a	n/a
19	CREB1	chr10:49514094-49515417	HepG2	liver:	n/a	n/a
20	NR2F2	chr10:49514082-49514695	MCF-7	breast:	n/a	n/a
21	MAX	chr10:49513912-49515490	A549	lung:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
22	ELF1	chr10:49514161-49514865	K562	blood:	n/a	chr10:49514736-49514748 chr10:49514856-49514865 chr10:49514764-49514776
23	MAX	chr10:49514037-49515255	MCF-7	breast:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
24	USF1	chr10:49514155-49514716	A549	lung:	n/a	chr10:49514447-49514463
25	MAX	chr10:49514081-49515625	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
26	SP1	chr10:49514179-49514684	A549	lung:	n/a	chr10:49514490-49514502 chr10:49514532-49514546 chr10:49514491-49514501 chr10:49514490-49514502 chr10:49514470-49514479 chr10:49514491-49514501 chr10:49514469-49514481 chr10:49514469-49514481
27	MAX	chr10:49514108-49514837	GM12878	blood:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
28	POLR2A	chr10:49514192-49515870	MCF10A-Er-Src	breast:	n/a	n/a
29	SETDB1	chr10:49514146-49514852	K562	blood:	n/a	n/a
30	E2F6	chr10:49514079-49515252	K562	blood:	n/a	chr10:49515161-49515173 chr10:49514934-49514944 chr10:49515100-49515110 chr10:49515114-49515123 chr10:49514937-49514947 chr10:49514931-49514941
31	MAX	chr10:49514139-49515571	SK-N-SH	brain:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
32	RAD21	chr10:49514172-49514481	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZC3H11A	chr10:49514096-49514641	K562	blood:	n/a	n/a
34	USF1	chr10:49514157-49514697	H1-hESC	embryonic stem cell:	n/a	chr10:49514447-49514463
35	MYC	chr10:49513954-49514873	K562	blood:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
36	POLR2A	chr10:49514188-49515281	K562	blood:	n/a	n/a
37	E2F4	chr10:49513857-49515254	MCF10A-Er-Src	breast:	n/a	chr10:49515161-49515173 chr10:49514934-49514944 chr10:49515100-49515110 chr10:49515114-49515123 chr10:49514937-49514947 chr10:49514931-49514941
38	TBL1XR1	chr10:49514024-49515240	GM12878	blood:	n/a	n/a
39	TRIM28	chr10:49513916-49514624	K562	blood:	n/a	n/a
40	E2F4	chr10:49514152-49515542	K562	blood:	n/a	chr10:49515161-49515173 chr10:49514934-49514944 chr10:49515100-49515110 chr10:49515272-49515281 chr10:49515114-49515123 chr10:49514937-49514947 chr10:49514931-49514941 chr10:49515317-49515332
41	EGR1	chr10:49514015-49515320	HCT-116	colon:	n/a	chr10:49514684-49514697 chr10:49515114-49515124 chr10:49514692-49514701 chr10:49515180-49515190 chr10:49514686-49514696
42	TBL1XR1	chr10:49514013-49514758	K562	blood:	n/a	n/a
43	MAX	chr10:49513937-49514877	K562	blood:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
44	MAX	chr10:49514088-49515258	ECC-1	luminal epithelium:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
45	POLR2A	chr10:49514182-49515457	GM18505	blood:	n/a	n/a
46	TEAD4	chr10:49513841-49515213	K562	blood:	n/a	n/a
47	USF1	chr10:49514193-49514708	ECC-1	luminal epithelium:	n/a	chr10:49514447-49514463
48	MAX	chr10:49513917-49515370	HCT-116	colon:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
49	USF1	chr10:49514150-49514739	ECC-1	luminal epithelium:	n/a	chr10:49514447-49514463
50	MAX	chr10:49513998-49515389	A549	lung:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191

No.	Distal block	Cell Line	Cell type
1	chr10:49496582..49501262-chr10:49513244..49517429,4	K562	blood:
2	chr10:49495793..49496380-chr10:49514095..49514687,2	MCF-7	breast:
3	chr10:49508706..49510479-chr10:49512304..49514227,2	MCF-7	breast:
4	chr10:49498367..49502317-chr10:49513526..49516072,3	MCF-7	breast:
5	chr10:49459652..49462139-chr10:49513267..49515617,2	K562	blood:

Variant related genes	Relation type
MAPK8	TF binding region
ENSG00000170324	Chromatin interaction
ENSG00000225482	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550812	chr10:49484698-49524715	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
7	esv3388984	chr10:49513771-49516519	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
8	esv3449549	chr10:49513996-49515994	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49496400-49514200	Weak transcription	Right Atrium	heart
2	chr10:49511400-49514400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:49513400-49514200	Enhancers	HUVEC	blood vessel
4	chr10:49514000-49514200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
5	chr10:49514000-49514200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr10:49514000-49514200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr10:49514000-49514200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:49514000-49514200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr10:49514000-49514200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:49514000-49514200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:49514000-49514200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr10:49514000-49514200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:49514000-49514200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr10:49514000-49514200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr10:49514000-49514200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:49514000-49514200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:49514000-49514200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr10:49514000-49514200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr10:49514000-49514200	Enhancers	Primary B cells from peripheral blood	blood
20	chr10:49514000-49514200	Enhancers	Primary T cells from cord blood	blood
21	chr10:49514000-49514200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr10:49514000-49514200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr10:49514000-49514200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr10:49514000-49514200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr10:49514000-49514200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:49514000-49514200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr10:49514000-49514200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:49514000-49514200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr10:49514000-49514200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:49514000-49514200	Enhancers	Esophagus	oesophagus
31	chr10:49514000-49514200	Flanking Active TSS	Fetal Brain Female	brain
32	chr10:49514000-49514200	Enhancers	Fetal Muscle Leg	muscle
33	chr10:49514000-49514200	Enhancers	Placenta	Placenta
34	chr10:49514000-49514200	Enhancers	Fetal Stomach	stomach
35	chr10:49514000-49514200	Enhancers	Pancreas	Pancrea
36	chr10:49514000-49514200	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr10:49514000-49514200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr10:49514000-49514200	Flanking Active TSS	Small Intestine	intestine
39	chr10:49514000-49514200	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr10:49514000-49514200	Enhancers	NH-A	brain
41	chr10:49514000-49514200	Bivalent Enhancer	NHDF-Ad	bronchial
42	chr10:49514000-49514200	Flanking Active TSS	Osteobl	bone
43	chr10:49514000-49514400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr10:49514000-49514400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr10:49514000-49514400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr10:49514000-49514400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr10:49514000-49514400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr10:49514000-49514400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr10:49514000-49514400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr10:49514000-49514400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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