Variant report

Variant	rs546528694
Chromosome Location	chr2:47167999-47168000
allele	C/T
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	SP1	chr2:47167281-47168223	A549	lung:	n/a	chr2:47167597-47167606 chr2:47168108-47168117 chr2:47167596-47167608 chr2:47167925-47167937 chr2:47167925-47167937 chr2:47167596-47167608 chr2:47167598-47167607 chr2:47168104-47168118 chr2:47168107-47168119 chr2:47167927-47167936 chr2:47167597-47167606
2	POLR2A	chr2:47167999-47168637	PANC-1	pancreas:	n/a	n/a
3	PML	chr2:47167494-47168024	GM12878	blood:	n/a	n/a
4	E2F4	chr2:47167993-47169602	K562	blood:	n/a	chr2:47169461-47169468 chr2:47168901-47168909 chr2:47168899-47168910 chr2:47169461-47169468 chr2:47168108-47168120 chr2:47168958-47168968 chr2:47169457-47169469 chr2:47169461-47169468
5	CREB1	chr2:47167831-47169080	A549	lung:	n/a	chr2:47168009-47168022
6	ZNF143	chr2:47167686-47168049	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZBTB7A	chr2:47167608-47168272	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr2:47167989-47168148	K562	blood:	n/a	n/a
9	ZBTB7A	chr2:47167467-47169239	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr2:47167486-47168583	U87	brain:	n/a	n/a
11	POLR2A	chr2:47167996-47169186	K562	blood:	n/a	n/a
12	POLR2A	chr2:47167706-47169478	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr2:47167603-47169355	K562	blood:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760
14	PML	chr2:47167975-47168466	K562	blood:	n/a	n/a
15	POLR2A	chr2:47167805-47169022	A549	lung:	n/a	n/a
16	MYC	chr2:47167697-47169785	NB4	blood:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760
17	MXI1	chr2:47166976-47169461	HepG2	liver:	n/a	n/a
18	GATA3	chr2:47167309-47169655	A549	lung:	n/a	chr2:47169431-47169439
19	RFX5	chr2:47167635-47168057	HepG2	liver:	n/a	chr2:47167920-47167928
20	MAX	chr2:47167779-47169115	HepG2	liver:	n/a	chr2:47168106-47168116 chr2:47169037-47169048
21	YY1	chr2:47167765-47169076	HepG2	liver:	n/a	chr2:47168670-47168690 chr2:47168245-47168259 chr2:47167942-47167953 chr2:47168676-47168688
22	MAX	chr2:47167138-47169869	Hela-S3	cervix:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760
23	SMARCB1	chr2:47167445-47169505	Hela-S3	cervix:	n/a	n/a
24	YY1	chr2:47167860-47168074	K562	blood:	n/a	chr2:47167942-47167953
25	CTCF	chr2:47167940-47168230	GM12865	blood:	n/a	n/a
26	MYC	chr2:47167712-47169673	K562	blood:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760
27	MAX	chr2:47167900-47168096	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:47166646-47169549	HepG2	liver:	n/a	n/a
29	EP300	chr2:47167679-47168448	HepG2	liver:	n/a	chr2:47168025-47168041
30	EGR1	chr2:47167736-47168525	HCT-116	colon:	n/a	chr2:47168105-47168115 chr2:47168103-47168116 chr2:47168102-47168117 chr2:47168379-47168393 chr2:47168103-47168116
31	POLR2A	chr2:47167963-47169919	GM12892	blood:	n/a	n/a
32	POLR2A	chr2:47167989-47169640	GM10847	blood:	n/a	n/a
33	HEY1	chr2:47167857-47168559	K562	blood:	n/a	n/a
34	SP1	chr2:47167379-47168156	A549	lung:	n/a	chr2:47167597-47167606 chr2:47168108-47168117 chr2:47167596-47167608 chr2:47167925-47167937 chr2:47167925-47167937 chr2:47167596-47167608 chr2:47167598-47167607 chr2:47168104-47168118 chr2:47168107-47168119 chr2:47167927-47167936 chr2:47167597-47167606
35	SIN3A	chr2:47167797-47169483	H1-hESC	embryonic stem cell:	n/a	chr2:47167951-47167960 chr2:47167933-47167946 chr2:47168399-47168408
36	POLR2A	chr2:47167932-47169713	GM18526	blood:	n/a	n/a
37	E2F6	chr2:47167811-47168479	K562	blood:	n/a	chr2:47168108-47168120
38	MAX	chr2:47167670-47168486	SK-N-SH	brain:	n/a	chr2:47168106-47168116 chr2:47167751-47167760
39	HEY1	chr2:47167080-47169431	HepG2	liver:	n/a	chr2:47167527-47167542
40	POLR2A	chr2:47167967-47168574	HepG2	liver:	n/a	n/a
41	ZBTB7A	chr2:47167763-47168723	K562	blood:	n/a	n/a
42	POLR2A	chr2:47167821-47169294	H1-neurons	neurons:	n/a	n/a
43	SIN3AK20	chr2:47167406-47169834	MCF-7	breast:	n/a	n/a
44	POLR2A	chr2:47167783-47169378	A549	lung:	n/a	n/a
45	JUND	chr2:47167730-47168205	K562	blood:	n/a	n/a
46	SIN3AK20	chr2:47167752-47169122	K562	blood:	n/a	n/a
47	RCOR1	chr2:47167738-47169679	K562	blood:	n/a	n/a
48	ZNF143	chr2:47167629-47168409	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr2:47167277-47169628	Hela-S3	cervix:	n/a	n/a
50	MAX	chr2:47167703-47169600	K562	blood:	n/a	chr2:47168106-47168116 chr2:47169037-47169048 chr2:47167751-47167760

No.	Distal block	Cell Line	Cell type
1	chr2:47166662..47168239-chr2:47214409..47216366,2	MCF-7	breast:
2	chr17:62502600..62503535-chr2:47167830..47168748,2	Hela-S3	cervix:
3	chr2:47167461..47169104-chr2:47203278..47205346,2	MCF-7	breast:
4	chr2:47166915..47170495-chr2:47399445..47404516,7	MCF-7	breast:
5	chr2:47166648..47168601-chr2:47272959..47275479,2	MCF-7	breast:
6	chr2:47166510..47168193-chr2:47197498..47199709,2	MCF-7	breast:
7	chr2:47166485..47169114-chr2:47402596..47405123,4	MCF-7	breast:
8	chr2:46768715..46770395-chr2:47165746..47168568,2	MCF-7	breast:
9	chr2:47139463..47143529-chr2:47167839..47169953,4	K562	blood:
10	chr2:47135393..47141252-chr2:47166022..47170880,5	K562	blood:
11	chr2:47165446..47170208-chr2:47173646..47177856,9	MCF-7	breast:
12	chr2:47167753..47168313-chr21:38738139..38738678,2	Hela-S3	cervix:
13	chr2:47143277..47146895-chr2:47166934..47170660,7	MCF-7	breast:
14	chr2:47167291..47170086-chr2:47204793..47207048,4	MCF-7	breast:
15	chr2:47139886..47146981-chr2:47165365..47170438,17	MCF-7	breast:
16	chr2:47167989..47168719-chr20:43514228..43514841,2	Hela-S3	cervix:
17	chr2:47141557..47143529-chr2:47167839..47169788,2	K562	blood:
18	chr2:47141053..47143152-chr2:47167792..47169429,2	MCF-7	breast:
19	chr2:47166107..47171055-chr2:47402078..47404965,9	K562	blood:

Variant related genes	Relation type
TTC7A	TF binding region
ENSG00000143933	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000273210	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000166913	Chromatin interaction
ENSG00000250565	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv3427405	chr2:47166973-47169821	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv3332265	chr2:47167448-47169546	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47166600-47168000	Enhancers	Fetal Heart	heart
2	chr2:47166800-47168000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr2:47166800-47168000	Flanking Active TSS	Fetal Thymus	thymus
4	chr2:47166800-47168000	Flanking Active TSS	HSMM	muscle
5	chr2:47167000-47168000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr2:47167000-47168000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr2:47167000-47168000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:47167000-47168000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:47167000-47168000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr2:47167000-47168000	Enhancers	Gastric	stomach
11	chr2:47167000-47168000	Flanking Active TSS	Osteobl	bone
12	chr2:47167000-47168200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr2:47167200-47168000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:47167200-47168000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:47167200-47168000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr2:47167200-47168000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr2:47167200-47168000	Flanking Active TSS	HMEC	breast
18	chr2:47167200-47168000	Flanking Active TSS	NHEK	skin
19	chr2:47167200-47168000	Flanking Active TSS	NHLF	lung
20	chr2:47167200-47168200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr2:47167200-47168200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr2:47167200-47168200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:47167200-47168200	Flanking Active TSS	Colonic Mucosa	Colon
24	chr2:47167400-47168000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:47167400-47168000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr2:47167400-47168000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:47167400-47168000	Flanking Active TSS	Liver	Liver
28	chr2:47167400-47168000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr2:47167400-47168000	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr2:47167400-47168000	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr2:47167400-47168000	Flanking Active TSS	Placenta	Placenta
32	chr2:47167400-47168000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:47167400-47168000	Flanking Active TSS	NH-A	brain
34	chr2:47167400-47169000	Active TSS	Right Atrium	heart
35	chr2:47167400-47169200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr2:47167400-47169400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:47167400-47169600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr2:47167600-47168000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr2:47167600-47168000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr2:47167600-47168000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:47167600-47168000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr2:47167600-47168000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:47167600-47168000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:47167600-47168000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:47167600-47168000	Active TSS	Brain Germinal Matrix	brain
46	chr2:47167600-47168000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr2:47167600-47168000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr2:47167600-47168000	Flanking Active TSS	Stomach Mucosa	stomach
49	chr2:47167600-47168000	Flanking Active TSS	HUVEC	blood vessel
50	chr2:47167600-47168200	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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