Variant report

Variant	rs548642471
Chromosome Location	chr7:128170758-128170759
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	chr7:128170655-128172566	MCF10A-Er-Src	breast:	n/a	n/a
2	MAZ	chr7:128170303-128172201	IMR90	lung:	n/a	chr7:128171989-128171999 chr7:128171676-128171686 chr7:128171386-128171393
3	MAZ	chr7:128170625-128171721	Hela-S3	cervix:	n/a	chr7:128171676-128171686 chr7:128171386-128171393
4	POLR2A	chr7:128170546-128171287	H1-hESC	embryonic stem cell:	n/a	n/a
5	EBF1	chr7:128170249-128170861	GM12878	blood:	n/a	chr7:128170645-128170654 chr7:128170644-128170655
6	POLR2A	chr7:128170564-128170827	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr7:128170641-128172625	HUVEC	blood vessel:	n/a	n/a
8	HA-E2F1	chr7:128170605-128171807	Hela-S3	cervix:	n/a	chr7:128171191-128171200 chr7:128171246-128171255 chr7:128170606-128170615 chr7:128171609-128171618 chr7:128171029-128171039 chr7:128171621-128171631 chr7:128171050-128171060 chr7:128171677-128171686
9	POLR2A	chr7:128170671-128171304	H1-hESC	embryonic stem cell:	n/a	n/a
10	HDAC2	chr7:128170514-128170851	HepG2	liver:	n/a	chr7:128170757-128170766
11	POLR2A	chr7:128170615-128172384	GM18951	blood:	n/a	n/a
12	POLR2A	chr7:128170316-128172746	K562	blood:	n/a	n/a
13	POLR2A	chr7:128170629-128171987	GM19099	blood:	n/a	n/a
14	POLR2A	chr7:128170743-128171770	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr7:128170535-128172087	A549	lung:	n/a	n/a
16	POLR2A	chr7:128170616-128171254	GM12892	blood:	n/a	n/a
17	TAF1	chr7:128170278-128172669	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr7:128170459-128171763	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr7:128170121-128172665	SK-N-SH	brain:	n/a	n/a
20	E2F6	chr7:128170656-128171664	K562	blood:	n/a	chr7:128171191-128171200 chr7:128171246-128171255 chr7:128171609-128171618 chr7:128171029-128171039 chr7:128171621-128171631 chr7:128171050-128171060
21	POLR2A	chr7:128170526-128171282	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr7:128170505-128172524	A549	lung:	n/a	n/a
23	POLR2A	chr7:128170461-128172458	MCF-7	breast:	n/a	n/a
24	TAF1	chr7:128170718-128170957	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr7:128170735-128171880	GM15510	blood:	n/a	n/a
26	HEY1	chr7:128169674-128172791	K562	blood:	n/a	chr7:128171836-128171851 chr7:128171698-128171713 chr7:128171495-128171510 chr7:128171252-128171267 chr7:128170601-128170616
27	CTCF	chr7:128170711-128170823	GM12892	blood:	n/a	n/a
28	POLR2A	chr7:128169986-128170919	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:128170389-128172541	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:128170734-128172010	K562	blood:	n/a	n/a
31	POLR2A	chr7:128170586-128171552	PFSK-1	brain:	n/a	n/a
32	ZBTB7A	chr7:128170575-128172002	K562	blood:	n/a	chr7:128171533-128171541 chr7:128170765-128170776
33	POLR2A	chr7:128170610-128172580	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr7:128170733-128170929	K562	blood:	n/a	n/a
35	POLR2A	chr7:128170164-128171283	GM12891	blood:	n/a	n/a
36	TCF3	chr7:128170469-128172309	GM12878	blood:	n/a	chr7:128172168-128172181 chr7:128171845-128171858
37	MXI1	chr7:128170489-128171981	IMR90	lung:	n/a	n/a
38	MAZ	chr7:128170750-128171910	K562	blood:	n/a	chr7:128171676-128171686 chr7:128171386-128171393
39	YY1	chr7:128170588-128171302	K562	blood:	n/a	chr7:128170603-128170612 chr7:128171049-128171058 chr7:128171260-128171271 chr7:128170606-128170615 chr7:128171221-128171235 chr7:128170603-128170617 chr7:128171191-128171205
40	POLR2A	chr7:128170624-128172583	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr7:128170626-128171603	GM12878	blood:	n/a	n/a
42	ELF1	chr7:128170375-128171886	GM12878	blood:	n/a	chr7:128171842-128171854 chr7:128171841-128171850 chr7:128171750-128171762 chr7:128171221-128171230 chr7:128170795-128170804 chr7:128171862-128171874 chr7:128171839-128171851 chr7:128170604-128170616 chr7:128171049-128171058 chr7:128171454-128171463
43	POLR2A	chr7:128170656-128171518	Gliobla	brain:	n/a	n/a
44	EBF1	chr7:128170473-128170802	GM12878	blood:	n/a	chr7:128170645-128170654 chr7:128170644-128170655
45	POLR2A	chr7:128170445-128172559	K562	blood:	n/a	n/a
46	TCF7L2	chr7:128170442-128171810	HCT-116	colon:	n/a	n/a
47	HA-E2F1	chr7:128170411-128171291	MCF-7	breast:	n/a	chr7:128171191-128171200 chr7:128171246-128171255 chr7:128170606-128170615 chr7:128171029-128171039 chr7:128171050-128171060
48	POLR2A	chr7:128169696-128172876	GM12878	blood:	n/a	n/a
49	TCF7L2	chr7:128170478-128170786	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr7:128170700-128170824	GM19238	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:60554358..60557025-chr7:128169837..128172731,3	MCF-7	breast:
2	chr17:60555036..60556427-chr7:128170464..128171900,5	Hela-S3	cervix:
3	chr7:128154968..128157377-chr7:128169188..128171020,2	K562	blood:
4	chr7:128116465..128119803-chr7:128169321..128173196,4	MCF-7	breast:
5	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
6	chr17:60555428..60556734-chr7:128170618..128172295,7	MCF-7	breast:
7	chr1:43423670..43424605-chr7:128170752..128171420,2	Hela-S3	cervix:
8	chr7:128095000..128097525-chr7:128170265..128171989,2	MCF-7	breast:
9	chr14:55878199..55878800-chr7:128170749..128171703,2	NB4	blood:
10	chr17:60555522..60557036-chr7:128169502..128171568,2	MCF-7	breast:
11	chr7:128094511..128096087-chr7:128168839..128171295,2	K562	blood:
12	chr17:60555920..60556424-chr7:128170752..128171283,2	HCT-116	colon:
13	chr15:66796944..66797841-chr7:128170664..128171300,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-METTL2B-1	chr7:128169669-128170972	XLOC_006240

Variant related genes	Relation type
ENSG00000242588	TF binding region
ENSG00000106348	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000174442	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000174444	Chromatin interaction
ENSG00000117394	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000146872	Chromatin interaction
ENSG00000165055	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3326672	chr7:128169741-128173589	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3345652	chr7:128170041-128172564	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv3370991	chr7:128170166-128172864	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128169200-128173000	Active TSS	Stomach Smooth Muscle	stomach
2	chr7:128169600-128174200	Active TSS	Fetal Brain Female	brain
3	chr7:128169800-128171000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:128169800-128172400	Active TSS	Brain Cingulate Gyrus	brain
5	chr7:128169800-128172600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:128169800-128173000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:128169800-128173200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:128169800-128173200	Active TSS	A549	lung
9	chr7:128169800-128173600	Active TSS	NHDF-Ad	bronchial
10	chr7:128169800-128173800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr7:128169800-128174000	Active TSS	NHLF	lung
12	chr7:128170000-128173000	Active TSS	Brain Anterior Caudate	brain
13	chr7:128170000-128173200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr7:128170000-128173200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:128170000-128173200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr7:128170000-128173200	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr7:128170000-128173200	Active TSS	Osteobl	bone
18	chr7:128170000-128173400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr7:128170000-128173400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:128170000-128173400	Active TSS	Right Ventricle	heart
21	chr7:128170000-128173600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:128170000-128173600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr7:128170000-128173600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:128170000-128173600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:128170000-128173600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:128170000-128173600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:128170000-128173600	Active TSS	Brain Germinal Matrix	brain
28	chr7:128170000-128173600	Active TSS	Rectal Smooth Muscle	rectum
29	chr7:128170000-128173600	Active TSS	HMEC	breast
30	chr7:128170200-128170800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:128170200-128172200	Weak transcription	Stomach Mucosa	stomach
32	chr7:128170200-128172600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr7:128170200-128172600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:128170200-128172600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:128170200-128172600	Active TSS	Aorta	Aorta
36	chr7:128170200-128172600	Active TSS	Esophagus	oesophagus
37	chr7:128170200-128172600	Active TSS	Gastric	stomach
38	chr7:128170200-128172600	Active TSS	Ovary	ovary
39	chr7:128170200-128172600	Active TSS	Placenta Amnion	Placenta Amnion
40	chr7:128170200-128172600	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr7:128170200-128172800	Active TSS	Primary T cells from cord blood	blood
42	chr7:128170200-128173000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:128170200-128173000	Active TSS	H9 Cell Line	embryonic stem cell
44	chr7:128170200-128173200	Active TSS	Duodenum Mucosa	Duodenum
45	chr7:128170200-128173200	Active TSS	Fetal Intestine Small	intestine
46	chr7:128170200-128173400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr7:128170200-128173400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:128170200-128173400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr7:128170200-128173600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:128170200-128173600	Active TSS	HSMM	muscle

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