Variant report

Variant	rs142461260
Chromosome Location	chr6:36954022-36954023
allele	A/C
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	MAX	chr6:36953693-36954702	K562	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
2	SPI1	chr6:36953764-36954071	GM12891	blood:	n/a	n/a
3	MAX	chr6:36953700-36954755	SK-N-SH	brain:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
4	ATF3	chr6:36953716-36954157	K562	blood:	n/a	chr6:36954012-36954021 chr6:36953976-36953996 chr6:36953976-36953985
5	ELF1	chr6:36953480-36954526	HepG2	liver:	n/a	chr6:36953954-36953963 chr6:36954016-36954028 chr6:36954181-36954193 chr6:36954167-36954179 chr6:36953925-36953938
6	GATA3	chr6:36953538-36954288	MCF-7	breast:	n/a	n/a
7	GABPA	chr6:36953756-36954164	Hela-S3	cervix:	n/a	chr6:36954132-36954141 chr6:36954012-36954021
8	FOXM1	chr6:36953682-36954163	GM12878	blood:	n/a	n/a
9	MAX	chr6:36953617-36954885	A549	lung:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
10	CEBPD	chr6:36953760-36954149	HepG2	liver:	n/a	n/a
11	ETS1	chr6:36953500-36954459	K562	blood:	n/a	chr6:36954232-36954243 chr6:36954010-36954021 chr6:36954177-36954190
12	NR2F2	chr6:36953655-36954529	K562	blood:	n/a	n/a
13	POLR2A	chr6:36953635-36954581	GM12892	blood:	n/a	n/a
14	GTF2F1	chr6:36953823-36954225	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr6:36953724-36954719	SK-N-SH	brain:	n/a	chr6:36954360-36954374 chr6:36954040-36954049 chr6:36954018-36954029 chr6:36954012-36954021 chr6:36954187-36954201 chr6:36954365-36954374 chr6:36954234-36954243
16	POLR2A	chr6:36953647-36954746	HepG2	liver:	n/a	n/a
17	RXRA	chr6:36953764-36954183	GM12878	blood:	n/a	chr6:36954003-36954023 chr6:36954137-36954157
18	YY1	chr6:36953697-36954461	HCT-116	colon:	n/a	chr6:36954360-36954374 chr6:36954040-36954049 chr6:36954018-36954029 chr6:36954012-36954021 chr6:36954187-36954201 chr6:36954365-36954374 chr6:36954234-36954243
19	YY1	chr6:36953586-36954604	GM12892	blood:	n/a	chr6:36954360-36954374 chr6:36954040-36954049 chr6:36954018-36954029 chr6:36954012-36954021 chr6:36954187-36954201 chr6:36954365-36954374 chr6:36954234-36954243
20	TCF3	chr6:36953577-36954414	GM12878	blood:	n/a	n/a
21	MYC	chr6:36953719-36954957	NB4	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
22	E2F6	chr6:36953592-36954418	K562	blood:	n/a	chr6:36954012-36954021 chr6:36954234-36954243
23	CREB1	chr6:36953832-36954140	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr6:36953831-36954675	U87	brain:	n/a	n/a
25	POLR2A	chr6:36953625-36954855	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELF1	chr6:36953521-36954543	SK-N-SH	brain:	n/a	chr6:36953954-36953963 chr6:36954016-36954028 chr6:36954181-36954193 chr6:36954167-36954179 chr6:36953925-36953938
27	USF2	chr6:36953780-36954167	Hela-S3	cervix:	n/a	chr6:36954127-36954143 chr6:36953974-36953985 chr6:36953970-36953991 chr6:36953977-36953986 chr6:36953976-36953985 chr6:36953974-36953987 chr6:36953976-36953985 chr6:36953975-36953984
28	MXI1	chr6:36953629-36954730	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:36953561-36954533	HUVEC	blood vessel:	n/a	n/a
30	HNF4A	chr6:36953637-36954465	HepG2	liver:	n/a	chr6:36954140-36954147
31	CREB1	chr6:36953534-36954628	K562	blood:	n/a	n/a
32	TBP	chr6:36953755-36954486	GM12878	blood:	n/a	n/a
33	POLR2A	chr6:36953632-36955129	K562	blood:	n/a	n/a
34	POLR2A	chr6:36953652-36954769	HEK293	kidney:	n/a	n/a
35	THAP1	chr6:36953648-36954472	K562	blood:	n/a	n/a
36	SIN3AK20	chr6:36953467-36954604	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr6:36953551-36954899	MCF-7	breast:	n/a	n/a
38	JUND	chr6:36953715-36954423	HepG2	liver:	n/a	n/a
39	TCF12	chr6:36953597-36954585	ECC-1	luminal epithelium:	n/a	chr6:36954488-36954496
40	POLR2A	chr6:36953696-36954672	GM12878	blood:	n/a	n/a
41	ZNF384	chr6:36953777-36954072	K562	blood:	n/a	n/a
42	SIN3A	chr6:36952572-36954896	H1-hESC	embryonic stem cell:	n/a	chr6:36954205-36954218 chr6:36954129-36954142
43	RFX5	chr6:36953782-36954712	Hela-S3	cervix:	n/a	n/a
44	SP1	chr6:36953761-36954396	HepG2	liver:	n/a	chr6:36954011-36954023 chr6:36954234-36954244 chr6:36954011-36954023 chr6:36954013-36954022 chr6:36954013-36954022 chr6:36954233-36954245 chr6:36954234-36954244 chr6:36954012-36954022 chr6:36954340-36954347 chr6:36954233-36954245 chr6:36953988-36954000 chr6:36954235-36954244 chr6:36953989-36953999 chr6:36954012-36954021 chr6:36954235-36954244 chr6:36954234-36954243 chr6:36954008-36954022 chr6:36954012-36954022 chr6:36953988-36954000 chr6:36953989-36953999
45	BRCA1	chr6:36953704-36954301	GM12878	blood:	n/a	n/a
46	HA-E2F1	chr6:36953650-36954463	MCF-7	breast:	n/a	chr6:36954012-36954021 chr6:36954234-36954243
47	POLR2A	chr6:36953630-36954652	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr6:36953820-36954138	H1-hESC	embryonic stem cell:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
49	MYC	chr6:36953758-36955211	K562	blood:	n/a	chr6:36953976-36953985 chr6:36953976-36953985 chr6:36953976-36953985
50	YY1	chr6:36953406-36954404	K562	blood:	n/a	chr6:36954360-36954374 chr6:36954040-36954049 chr6:36954018-36954029 chr6:36954012-36954021 chr6:36954187-36954201 chr6:36954365-36954374 chr6:36954234-36954243

No.	Distal block	Cell Line	Cell type
1	chr6:36930754..36936310-chr6:36950773..36956274,7	MCF-7	breast:
2	chr6:36952074..36956895-chr6:36967839..36978010,11	MCF-7	breast:
3	chr10:74033541..74034167-chr6:36953934..36954557,2	Hela-S3	cervix:
4	chr22:38203892..38204538-chr6:36953541..36954473,2	Hela-S3	cervix:
5	chr17:7760801..7761678-chr6:36953555..36954417,2	Hela-S3	cervix:
6	chr5:179233344..179233858-chr6:36953828..36954636,2	Hela-S3	cervix:
7	chr6:36952261..36954341-chr6:37137585..37140214,3	K562	blood:
8	chr6:36911927..36913902-chr6:36952339..36954357,2	MCF-7	breast:
9	chr6:36953981..36954715-chr9:94185943..94186578,2	Hela-S3	cervix:
10	chr6:36852278..36855515-chr6:36952430..36957026,4	MCF-7	breast:
11	chr6:36852138..36856054-chr6:36953606..36956862,5	K562	blood:
12	chr4:15003883..15004454-chr6:36953903..36954495,2	Hela-S3	cervix:
13	chr12:110887592..110888194-chr6:36953724..36954482,2	NB4	blood:
14	chr6:36724390..36726745-chr6:36953555..36956553,2	K562	blood:
15	chr6:36929829..36933522-chr6:36953197..36956380,5	MCF-7	breast:
16	chr6:36934908..36939247-chr6:36952489..36955593,6	MCF-7	breast:
17	chr6:36952431..36954730-chr6:36980411..36983158,3	MCF-7	breast:
18	chr1:181057607..181058228-chr6:36953385..36954212,2	NB4	blood:
19	chr6:36838369..36843263-chr6:36951921..36955568,5	MCF-7	breast:
20	chr12:65996353..65997155-chr6:36953845..36954457,2	HCT-116	colon:
21	chr6:36953605..36955180-chr6:37399250..37401093,2	K562	blood:

Variant related genes	Relation type
MTCH1	TF binding region
ENSG00000168209	Chromatin interaction
ENSG00000256268	Chromatin interaction
ENSG00000137449	Chromatin interaction
ENSG00000146192	Chromatin interaction
ENSG00000137168	Chromatin interaction
ENSG00000182224	Chromatin interaction
ENSG00000164530	Chromatin interaction
ENSG00000137409	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000162783	Chromatin interaction
ENSG00000165030	Chromatin interaction
ENSG00000198663	Chromatin interaction
ENSG00000111229	Chromatin interaction
ENSG00000137193	Chromatin interaction
ENSG00000137200	Chromatin interaction
ENSG00000183011	Chromatin interaction
ENSG00000124772	Chromatin interaction
ENSG00000232598	Chromatin interaction
ENSG00000100116	Chromatin interaction
ENSG00000161013	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv5263	chr6:36941625-36972109	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv602952	chr6:36951210-36978745	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv19906	chr6:36951876-36955062	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
8	esv3404117	chr6:36952499-36955347	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
9	nsv602953	chr6:36953091-36954082	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	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	chr6:36952200-36954600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:36952200-36955200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:36952200-36955200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:36952400-36954400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:36952400-36954800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:36952400-36954800	Active TSS	A549	lung
7	chr6:36952400-36955000	Active TSS	Ovary	ovary
8	chr6:36952400-36955200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:36952600-36954400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:36952600-36954600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:36952600-36954600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr6:36952600-36954600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:36952600-36954600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr6:36952600-36954600	Active TSS	NHLF	lung
15	chr6:36952600-36954800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr6:36952600-36954800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:36952600-36954800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:36952600-36954800	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:36952600-36954800	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr6:36952600-36954800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:36952600-36954800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:36952600-36954800	Active TSS	Aorta	Aorta
23	chr6:36952600-36954800	Active TSS	Rectal Smooth Muscle	rectum
24	chr6:36952600-36954800	Active TSS	GM12878-XiMat	blood
25	chr6:36952600-36954800	Active TSS	NHDF-Ad	bronchial
26	chr6:36952600-36955000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:36952600-36955000	Active TSS	Lung	lung
28	chr6:36952600-36955400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:36952600-36955400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr6:36952600-36955400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr6:36952600-36955400	Active TSS	Fetal Muscle Trunk	muscle
32	chr6:36952800-36954200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:36952800-36954400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:36952800-36954400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr6:36952800-36954400	Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr6:36952800-36954400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr6:36952800-36954400	Active TSS	HMEC	breast
38	chr6:36952800-36954400	Active TSS	NH-A	brain
39	chr6:36952800-36954600	Active TSS	H1 Cell Line	embryonic stem cell
40	chr6:36952800-36954600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr6:36952800-36954600	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr6:36952800-36954600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:36952800-36954600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:36952800-36954600	Active TSS	Brain Cingulate Gyrus	brain
45	chr6:36952800-36954600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr6:36952800-36954600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr6:36952800-36954600	Active TSS	Fetal Heart	heart
48	chr6:36952800-36954600	Active TSS	Fetal Kidney	kidney
49	chr6:36952800-36954600	Active TSS	Fetal Lung	lung
50	chr6:36952800-36954600	Active TSS	Fetal Stomach	stomach

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