Variant report

Variant	rs80292977
Chromosome Location	chr6:146055932-146055933
allele	G/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	CREB1	chr6:146055654-146057365	HepG2	liver:	n/a	n/a
2	SETDB1	chr6:146055807-146057192	K562	blood:	n/a	n/a
3	IRF1	chr6:146055781-146056732	K562	blood:	n/a	chr6:146055792-146055802
4	POLR2A	chr6:146055017-146057985	GM12878	blood:	n/a	n/a
5	EP300	chr6:146055803-146056253	H1-hESC	embryonic stem cell:	n/a	chr6:146056233-146056249 chr6:146055894-146055910
6	MAZ	chr6:146055828-146057530	GM12878	blood:	n/a	chr6:146056754-146056763 chr6:146057245-146057254 chr6:146056754-146056761 chr6:146056752-146056765
7	MYC	chr6:146055787-146057258	Hela-S3	cervix:	n/a	chr6:146056754-146056763 chr6:146057245-146057254 chr6:146056754-146056761 chr6:146056752-146056765
8	POLR2A	chr6:146055809-146056906	A549	lung:	n/a	n/a
9	EP300	chr6:146055391-146056057	K562	blood:	n/a	chr6:146055677-146055691 chr6:146055676-146055690 chr6:146055894-146055910
10	RUNX3	chr6:146055741-146056549	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:146055778-146056941	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr6:146055648-146057475	GM18505	blood:	n/a	n/a
13	E2F6	chr6:146055695-146057241	A549	lung:	n/a	chr6:146056134-146056143 chr6:146056078-146056090 chr6:146056683-146056693 chr6:146056820-146056832 chr6:146056229-146056238 chr6:146056640-146056650 chr6:146056079-146056090 chr6:146056008-146056017 chr6:146056237-146056247 chr6:146056246-146056256
14	MYC	chr6:146055894-146056985	MCF-7	breast:	n/a	chr6:146056754-146056763 chr6:146056754-146056761 chr6:146056752-146056765
15	RELA	chr6:146055855-146057366	GM18505	blood:	n/a	n/a
16	KAP1	chr6:146055153-146056328	U2OS	brain:	n/a	n/a
17	BCLAF1	chr6:146055626-146057292	K562	blood:	n/a	chr6:146056929-146056938 chr6:146056638-146056651 chr6:146056681-146056694 chr6:146055898-146055911 chr6:146056643-146056652 chr6:146056085-146056098 chr6:146056635-146056648 chr6:146056640-146056649
18	TAF1	chr6:146055916-146056560	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr6:146055783-146056886	HepG2	liver:	n/a	n/a
20	MAZ	chr6:146055757-146057140	Hela-S3	cervix:	n/a	chr6:146056754-146056763 chr6:146056754-146056761 chr6:146056752-146056765
21	EP300	chr6:146055709-146056726	HepG2	liver:	n/a	chr6:146056674-146056690 chr6:146056233-146056249 chr6:146056677-146056693 chr6:146056293-146056309 chr6:146056641-146056650 chr6:146056636-146056645 chr6:146055894-146055910
22	MYBL2	chr6:146055674-146057078	HepG2	liver:	n/a	n/a
23	SIN3A	chr6:146055879-146056856	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr6:146055735-146056939	SK-N-SH	brain:	n/a	n/a
25	ELF1	chr6:146055787-146056978	K562	blood:	n/a	chr6:146056131-146056140 chr6:146056232-146056241 chr6:146056639-146056648 chr6:146056642-146056651 chr6:146056737-146056749
26	POLR2A	chr6:146055475-146057511	H1-hESC	embryonic stem cell:	n/a	n/a
27	HEY1	chr6:146055696-146057362	K562	blood:	n/a	chr6:146056637-146056652 chr6:146055900-146055915 chr6:146056231-146056246 chr6:146056237-146056252
28	CREB1	chr6:146055768-146056533	H1-hESC	embryonic stem cell:	n/a	n/a
29	NFIC	chr6:146055593-146056229	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:146055656-146057448	GM12892	blood:	n/a	n/a
31	GABPA	chr6:146055773-146057069	K562	blood:	n/a	chr6:146056007-146056021 chr6:146056636-146056645
32	E2F6	chr6:146055853-146056987	K562	blood:	n/a	chr6:146056134-146056143 chr6:146056078-146056090 chr6:146056683-146056693 chr6:146056820-146056832 chr6:146056229-146056238 chr6:146056640-146056650 chr6:146056079-146056090 chr6:146056008-146056017 chr6:146056237-146056247 chr6:146056246-146056256
33	TCF12	chr6:146055647-146056395	A549	lung:	n/a	n/a
34	TFAP2C	chr6:146055681-146057097	Hela-S3	cervix:	n/a	n/a
35	MAX	chr6:146055689-146057112	MCF-7	breast:	n/a	chr6:146056754-146056763 chr6:146056754-146056761 chr6:146056752-146056765
36	YY1	chr6:146055794-146057169	GM12891	blood:	n/a	chr6:146056242-146056256 chr6:146056642-146056651 chr6:146056640-146056651 chr6:146056304-146056318 chr6:146056680-146056694 chr6:146055903-146055914 chr6:146056239-146056253 chr6:146056310-146056321 chr6:146056639-146056653 chr6:146056639-146056648 chr6:146056672-146056681 chr6:146056636-146056650
37	E2F4	chr6:146055786-146057293	K562	blood:	n/a	chr6:146056134-146056143 chr6:146056078-146056090 chr6:146056683-146056693 chr6:146056820-146056832 chr6:146056229-146056238 chr6:146056640-146056650 chr6:146056008-146056017 chr6:146056237-146056247 chr6:146056246-146056256
38	POLR2A	chr6:146055791-146056938	A549	lung:	n/a	n/a
39	RFX5	chr6:146055876-146056172	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYBL2	chr6:146055533-146056346	HepG2	liver:	n/a	n/a
41	REST	chr6:146055754-146056503	PFSK-1	brain:	n/a	chr6:146056304-146056317
42	MTA3	chr6:146055694-146056180	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:146055775-146057355	MCF-7	breast:	n/a	n/a
44	POLR2A	chr6:146055717-146057378	Raji	blood:	n/a	n/a
45	USF1	chr6:146055846-146056149	SK-N-SH_RA	brain:	n/a	n/a
46	BHLHE40	chr6:146055762-146057226	HepG2	liver:	n/a	chr6:146056676-146056692
47	MAX	chr6:146055767-146057252	GM12878	blood:	n/a	chr6:146056754-146056763 chr6:146056754-146056761 chr6:146056752-146056765
48	POLR2A	chr6:146055638-146057308	K562	blood:	n/a	n/a
49	ZC3H11A	chr6:146055774-146056485	K562	blood:	n/a	n/a
50	POLR2A	chr6:146055853-146057312	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:43595203..43596723-chr6:146055866..146057723,2	MCF-7	breast:
2	chr6:146055478..146057329-chr6:146213622..146216410,2	K562	blood:
3	chr12:44199788..44200535-chr6:146055682..146056650,2	Hela-S3	cervix:
4	chr6:146054764..146058281-chr6:146133205..146137397,13	MCF-7	breast:
5	chr6:146054881..146058754-chr6:146284576..146286666,3	K562	blood:
6	chr10:75012200..75012758-chr6:146055684..146056249,2	Hela-S3	cervix:
7	chr1:228327693..228328321-chr6:146055580..146056537,2	Hela-S3	cervix:
8	chr6:146055814..146058166-chr6:146135376..146138309,3	MCF-7	breast:
9	chr19:16770512..16771052-chr6:146055843..146056790,2	Hela-S3	cervix:
10	chr6:146054188..146056153-chr6:146627133..146629580,2	K562	blood:
11	chr6:146051601..146058492-chr6:146282422..146286666,8	K562	blood:
12	chr6:146023773..146025394-chr6:146054656..146056157,2	K562	blood:
13	chr6:146052168..146062191-chr6:146124046..146141258,59	K562	blood:
14	chr6:146047378..146061811-chr6:146118130..146137627,77	K562	blood:
15	chr2:38977833..38978509-chr6:146055931..146056536,2	Hela-S3	cervix:
16	chr6:146054743..146057884-chr6:146276241..146279001,3	K562	blood:

Variant related genes	Relation type
ENSG00000270638	TF binding region
ENSG00000172432	Chromatin interaction
ENSG00000214046	Chromatin interaction
ENSG00000118496	Chromatin interaction
ENSG00000146414	Chromatin interaction
ENSG00000235652	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000182180	Chromatin interaction
ENSG00000143774	Chromatin interaction
ENSG00000268790	Chromatin interaction
ENSG00000227540	Chromatin interaction
ENSG00000151239	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv3424432	chr6:146041308-146057603	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3471925	chr6:146054784-146057832	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3471926	chr6:146054784-146057832	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	esv3384876	chr6:146055559-146057657	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr6:146054800-146056200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr6:146054800-146057800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr6:146054800-146058400	Active TSS	Stomach Smooth Muscle	stomach
4	chr6:146055000-146056000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:146055000-146057200	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr6:146055000-146057200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:146055000-146057400	Active TSS	Right Ventricle	heart
8	chr6:146055000-146057600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:146055000-146057600	Active TSS	Colon Smooth Muscle	Colon
10	chr6:146055000-146057800	Active TSS	Brain Angular Gyrus	brain
11	chr6:146055000-146058000	Active TSS	Fetal Stomach	stomach
12	chr6:146055000-146058000	Active TSS	Thymus	Thymus
13	chr6:146055000-146058400	Active TSS	Brain Germinal Matrix	brain
14	chr6:146055000-146058400	Active TSS	Right Atrium	heart
15	chr6:146055200-146056000	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr6:146055200-146056000	Flanking Active TSS	HUVEC	blood vessel
17	chr6:146055200-146056200	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr6:146055200-146056800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:146055200-146056800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:146055200-146057400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr6:146055200-146057400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:146055200-146057400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:146055200-146057400	Active TSS	Fetal Thymus	thymus
24	chr6:146055200-146057400	Active TSS	Psoas Muscle	Psoas
25	chr6:146055200-146057400	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr6:146055200-146057600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:146055200-146058000	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr6:146055200-146058000	Active TSS	Fetal Muscle Leg	muscle
29	chr6:146055200-146058400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:146055400-146056000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:146055400-146056000	Active TSS	Fetal Heart	heart
32	chr6:146055400-146056800	Active TSS	HepG2	liver
33	chr6:146055400-146056800	Active TSS	NH-A	brain
34	chr6:146055400-146056800	Active TSS	Osteobl	bone
35	chr6:146055400-146057000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr6:146055400-146057000	Active TSS	HMEC	breast
37	chr6:146055400-146057200	Active TSS	K562	blood
38	chr6:146055400-146057400	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr6:146055400-146057400	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr6:146055400-146057400	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr6:146055400-146057400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr6:146055400-146057400	Active TSS	Fetal Intestine Small	intestine
43	chr6:146055400-146057400	Active TSS	Fetal Kidney	kidney
44	chr6:146055400-146057400	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr6:146055400-146057600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:146055400-146057600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:146055400-146057600	Active TSS	Fetal Intestine Large	intestine
48	chr6:146055400-146057600	Active TSS	Fetal Lung	lung
49	chr6:146055400-146057800	Active TSS	Rectal Smooth Muscle	rectum
50	chr6:146055400-146058000	Active TSS	Rectal Mucosa Donor 31	rectum

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