Variant report

Variant	rs73781232
Chromosome Location	chr6:149887040-149887041
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	chr6:149886704-149887738	MCF10A-Er-Src	breast:	n/a	n/a
2	BCL3	chr6:149886665-149887201	GM12878	blood:	n/a	n/a
3	RAD21	chr6:149886701-149887069	Hela-S3	cervix:	n/a	chr6:149886875-149886885 chr6:149886870-149886889
4	MYBL2	chr6:149886575-149887419	HepG2	liver:	n/a	n/a
5	TAF7	chr6:149886713-149887089	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr6:149886692-149888412	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:149886740-149888355	GM15510	blood:	n/a	n/a
8	MAX	chr6:149886715-149887093	H1-hESC	embryonic stem cell:	n/a	n/a
9	RCOR1	chr6:149886701-149887660	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr6:149886662-149887157	H1-hESC	embryonic stem cell:	n/a	chr6:149886875-149886885 chr6:149886870-149886889
11	CREB1	chr6:149886749-149887051	A549	lung:	n/a	n/a
12	ZC3H11A	chr6:149886714-149887176	K562	blood:	n/a	n/a
13	YY1	chr6:149886756-149887059	ECC-1	luminal epithelium:	n/a	chr6:149886864-149886873
14	PML	chr6:149886559-149888531	GM12878	blood:	n/a	n/a
15	ZNF143	chr6:149886688-149887684	GM12878	blood:	n/a	chr6:149887506-149887524 chr6:149887405-149887423
16	ZNF384	chr6:149886319-149887106	GM12878	blood:	n/a	n/a
17	BHLHE40	chr6:149886574-149887288	GM12878	blood:	n/a	n/a
18	MAFK	chr6:149886710-149887256	HepG2	liver:	n/a	n/a
19	YY1	chr6:149886761-149887108	SK-N-SH_RA	brain:	n/a	chr6:149886864-149886873
20	FOSL2	chr6:149886659-149887083	A549	lung:	n/a	n/a
21	POLR2A	chr6:149886770-149888433	HepG2	liver:	n/a	n/a
22	CTCF	chr6:149886684-149887276	IMR90	lung:	n/a	chr6:149886872-149886881 chr6:149886869-149886887 chr6:149886866-149886879
23	POLR2A	chr6:149887008-149887379	SK-N-SH	brain:	n/a	n/a
24	ELK1	chr6:149886706-149887062	GM12878	blood:	n/a	n/a
25	CEBPB	chr6:149886601-149887282	GM12878	blood:	n/a	n/a
26	MXI1	chr6:149886586-149889230	GM12878	blood:	n/a	chr6:149888831-149888840 chr6:149888829-149888838
27	MAX	chr6:149886646-149887150	MCF-7	breast:	n/a	n/a
28	HDAC2	chr6:149886645-149887083	HepG2	liver:	n/a	chr6:149886737-149886751 chr6:149886739-149886753 chr6:149886738-149886752 chr6:149886735-149886749
29	WRNIP1	chr6:149886751-149887171	GM12878	blood:	n/a	n/a
30	NFIC	chr6:149886562-149887385	GM12878	blood:	n/a	n/a
31	MAX	chr6:149886678-149887158	A549	lung:	n/a	n/a
32	MAX	chr6:149886559-149888601	HepG2	liver:	n/a	n/a
33	FOXA1	chr6:149886688-149887074	HepG2	liver:	n/a	n/a
34	POLR2A	chr6:149886975-149888446	SK-N-MC	brain:	n/a	n/a
35	E2F4	chr6:149886805-149888341	K562	blood:	n/a	chr6:149887519-149887529 chr6:149886864-149886873 chr6:149887342-149887351
36	ZEB1	chr6:149886721-149887094	GM12878	blood:	n/a	chr6:149886825-149886836
37	IRF1	chr6:149886545-149887704	K562	blood:	n/a	chr6:149887106-149887120 chr6:149887106-149887116 chr6:149886781-149886794 chr6:149886776-149886793 chr6:149887105-149887117 chr6:149887105-149887116 chr6:149886780-149886791 chr6:149887497-149887511 chr6:149886781-149886794
38	CTCF	chr6:149886512-149887355	A549	lung:	n/a	chr6:149886872-149886881 chr6:149886869-149886887 chr6:149886866-149886879
39	REST	chr6:149886676-149887138	ECC-1	luminal epithelium:	n/a	chr6:149886854-149886863 chr6:149886857-149886870 chr6:149886854-149886861
40	YY1	chr6:149886749-149887051	HCT-116	colon:	n/a	chr6:149886864-149886873
41	TCF12	chr6:149886534-149887253	A549	lung:	n/a	chr6:149887199-149887208
42	NFIC	chr6:149886604-149887056	HepG2	liver:	n/a	n/a
43	YY1	chr6:149886745-149887058	GM12891	blood:	n/a	chr6:149886864-149886873
44	TAF1	chr6:149886692-149887101	H1-hESC	embryonic stem cell:	n/a	n/a
45	FOXM1	chr6:149886535-149887323	GM12878	blood:	n/a	n/a
46	FOXA1	chr6:149886605-149887399	HepG2	liver:	n/a	n/a
47	POLR2A	chr6:149886703-149887901	U87	brain:	n/a	n/a
48	ATF2	chr6:149886462-149887374	GM12878	blood:	n/a	n/a
49	REST	chr6:149886752-149887067	PANC-1	pancreas:	n/a	chr6:149886854-149886863 chr6:149886857-149886870 chr6:149886854-149886861
50	JUND	chr6:149886309-149888300	K562	blood:	n/a	chr6:149886932-149886943 chr6:149887107-149887119

No.	Distal block	Cell Line	Cell type
1	chr6:149867085..149868028-chr6:149886463..149887175,2	MCF-7	breast:
2	chr6:149865611..149871097-chr6:149883709..149888968,8	K562	blood:
3	chr6:149865083..149869048-chr6:149884009..149889859,10	MCF-7	breast:
4	chr6:149865819..149869096-chr6:149885709..149888757,8	MCF-7	breast:
5	chr6:149886502..149888168-chr6:150070978..150072960,2	K562	blood:
6	chr6:149863889..149870301-chr6:149880315..149888361,14	K562	blood:
7	chr6:149886793..149887314-chr6:150038696..150039225,2	MCF-7	breast:
8	chr6:149886717..149888905-chr6:150037583..150040474,2	MCF-7	breast:
9	chr6:149884132..149889842-chr6:149966518..149971305,10	K562	blood:
10	chr6:149884836..149889436-chr6:149966369..149971850,7	K562	blood:
11	chr6:149884840..149889202-chr6:150038504..150040931,4	K562	blood:
12	chr6:149886796..149887297-chr6:149969225..149969782,2	MCF-7	breast:

Variant related genes	Relation type
GINM1	TF binding region
ENSG00000120265	Chromatin interaction
ENSG00000131023	Chromatin interaction
ENSG00000186625	Chromatin interaction
ENSG00000131013	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73781229	0.90[AFR][1000 genomes]
rs73781230	1.00[AFR][1000 genomes]
rs73781236	0.84[AFR][1000 genomes]
rs73781240	0.90[AFR][1000 genomes]

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	nsv966665	chr6:149862756-149895103	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv289	chr6:149864898-149998818	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv5534	chr6:149864898-149998818	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr6:149885800-149888400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:149886000-149887600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:149886000-149888000	Active TSS	Stomach Smooth Muscle	stomach
4	chr6:149886000-149888200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr6:149886000-149888400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:149886000-149888600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:149886200-149887200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr6:149886200-149887200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:149886200-149887400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:149886200-149887600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr6:149886200-149887600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:149886200-149887800	Active TSS	Placenta Amnion	Placenta Amnion
13	chr6:149886200-149887800	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr6:149886200-149888000	Active TSS	Primary hematopoietic stem cells	blood
15	chr6:149886200-149888000	Active TSS	Duodenum Mucosa	Duodenum
16	chr6:149886200-149888000	Active TSS	Pancreas	Pancrea
17	chr6:149886200-149888000	Active TSS	HMEC	breast
18	chr6:149886200-149888200	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr6:149886200-149888200	Active TSS	Thymus	Thymus
20	chr6:149886200-149888200	Bivalent/Poised TSS	HepG2	liver
21	chr6:149886200-149888400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:149886200-149888400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:149886200-149888400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr6:149886200-149888400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr6:149886200-149888400	Active TSS	Aorta	Aorta
26	chr6:149886200-149888400	Active TSS	Lung	lung
27	chr6:149886200-149888400	Active TSS	NHEK	skin
28	chr6:149886200-149888600	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr6:149886200-149888600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr6:149886200-149888600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:149886200-149888600	Active TSS	Brain Anterior Caudate	brain
32	chr6:149886200-149888600	Active TSS	Colonic Mucosa	Colon
33	chr6:149886200-149888600	Active TSS	Fetal Intestine Large	intestine
34	chr6:149886200-149888800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr6:149886200-149888800	Active TSS	Fetal Intestine Small	intestine
36	chr6:149886200-149888800	Active TSS	Fetal Kidney	kidney
37	chr6:149886200-149888800	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr6:149886200-149888800	Active TSS	Rectal Smooth Muscle	rectum
39	chr6:149886200-149888800	Active TSS	A549	lung
40	chr6:149886400-149887200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr6:149886400-149887400	Active TSS	Right Atrium	heart
42	chr6:149886400-149887800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:149886400-149888000	Active TSS	Primary T cells fromperipheralblood	blood
44	chr6:149886400-149888000	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr6:149886400-149888000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:149886400-149888000	Active TSS	Liver	Liver
47	chr6:149886400-149888000	Active TSS	Placenta	Placenta
48	chr6:149886400-149888000	Active TSS	Fetal Thymus	thymus
49	chr6:149886400-149888200	Active TSS	Primary B cells from peripheral blood	blood
50	chr6:149886400-149888200	Active TSS	Primary T helper cells PMA-I stimulated	--

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