Variant report

Variant	rs551111249
Chromosome Location	chr7:65670093-65670094
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	TCF7L2	chr7:65669994-65670601	HCT-116	colon:	n/a	n/a
2	EGR1	chr7:65669779-65670347	K562	blood:	n/a	chr7:65669971-65669984
3	POLR2A	chr7:65669928-65670663	U87	brain:	n/a	n/a
4	CTCF	chr7:65670060-65670210	A549	lung:	n/a	n/a
5	CTCF	chr7:65670040-65670527	K562	blood:	n/a	n/a
6	SP1	chr7:65670006-65670439	GM12878	blood:	n/a	chr7:65670136-65670148 chr7:65670137-65670146 chr7:65670136-65670148 chr7:65670138-65670147 chr7:65670137-65670151
7	MXI1	chr7:65669662-65670554	HepG2	liver:	n/a	chr7:65669993-65670002 chr7:65670034-65670049 chr7:65670032-65670047
8	TCF12	chr7:65669911-65670475	GM12878	blood:	n/a	n/a
9	RAD21	chr7:65669681-65670886	H1-hESC	embryonic stem cell:	n/a	chr7:65670747-65670759 chr7:65670059-65670073
10	NFYB	chr7:65670006-65670505	K562	blood:	n/a	chr7:65670243-65670257 chr7:65670240-65670255 chr7:65670242-65670254 chr7:65670243-65670258 chr7:65670243-65670258
11	MAX	chr7:65669722-65670567	A549	lung:	n/a	chr7:65670022-65670031
12	MAZ	chr7:65669945-65670745	K562	blood:	n/a	chr7:65670022-65670031
13	PAX5	chr7:65670049-65670393	GM12878	blood:	n/a	chr7:65670193-65670211 chr7:65670205-65670215
14	POLR2A	chr7:65669934-65670657	U87	brain:	n/a	n/a
15	STAT1	chr7:65669917-65670479	GM12878	blood:	n/a	chr7:65670097-65670109
16	RUNX3	chr7:65669647-65670625	GM12878	blood:	n/a	n/a
17	TAF1	chr7:65669957-65670708	ECC-1	luminal epithelium:	n/a	n/a
18	TAF1	chr7:65670060-65671007	H1-hESC	embryonic stem cell:	n/a	n/a
19	SIN3A	chr7:65669573-65671475	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:65669935-65670596	ECC-1	luminal epithelium:	n/a	n/a
21	SP1	chr7:65669540-65670711	HCT-116	colon:	n/a	chr7:65670635-65670644 chr7:65670691-65670705 chr7:65670136-65670148 chr7:65670137-65670146 chr7:65670635-65670645 chr7:65670136-65670148 chr7:65670685-65670695 chr7:65670138-65670147 chr7:65670635-65670645 chr7:65670634-65670646 chr7:65669970-65669979 chr7:65670137-65670151 chr7:65670677-65670691 chr7:65670634-65670646 chr7:65670636-65670645 chr7:65669970-65669980 chr7:65670635-65670644 chr7:65669966-65669980
22	RAD21	chr7:65670093-65670535	H1-hESC	embryonic stem cell:	n/a	n/a
23	NFYA	chr7:65669860-65670936	Hela-S3	cervix:	n/a	chr7:65670243-65670257 chr7:65670242-65670254 chr7:65670243-65670258 chr7:65670243-65670258
24	ELF1	chr7:65669929-65670503	K562	blood:	n/a	n/a
25	TCF12	chr7:65669983-65670662	ECC-1	luminal epithelium:	n/a	n/a
26	USF1	chr7:65669889-65670390	SK-N-SH_RA	brain:	n/a	n/a
27	TAF1	chr7:65670056-65670582	A549	lung:	n/a	n/a
28	JUND	chr7:65670073-65670518	A549	lung:	n/a	n/a
29	HCFC1	chr7:65669987-65670535	K562	blood:	n/a	n/a
30	EBF1	chr7:65669722-65670215	GM12878	blood:	n/a	n/a
31	MXI1	chr7:65669396-65672418	IMR90	lung:	n/a	chr7:65669993-65670002 chr7:65670034-65670049 chr7:65670032-65670047
32	EP300	chr7:65669789-65670552	GM12878	blood:	n/a	chr7:65670141-65670157
33	POU2F2	chr7:65669628-65670524	GM12878	blood:	n/a	chr7:65669807-65669819 chr7:65669970-65669982 chr7:65669810-65669817 chr7:65669808-65669818 chr7:65669808-65669818 chr7:65669809-65669818 chr7:65669807-65669821
34	ZNF143	chr7:65669875-65670472	H1-hESC	embryonic stem cell:	n/a	chr7:65670109-65670119 chr7:65670271-65670289
35	FOXP2	chr7:65669939-65670821	PFSK-1	brain:	n/a	n/a
36	PAX5	chr7:65669906-65670490	GM12878	blood:	n/a	chr7:65670193-65670211 chr7:65670205-65670215
37	NFYB	chr7:65670080-65670420	Hela-S3	cervix:	n/a	chr7:65670243-65670257 chr7:65670240-65670255 chr7:65670242-65670254 chr7:65670243-65670258 chr7:65670243-65670258
38	MYC	chr7:65669959-65670398	K562	blood:	n/a	chr7:65670022-65670031
39	YY1	chr7:65670043-65670476	H1-hESC	embryonic stem cell:	n/a	chr7:65670063-65670074
40	HCFC1	chr7:65669474-65670617	Hela-S3	cervix:	n/a	n/a
41	RAD21	chr7:65670086-65670622	MCF-7	breast:	n/a	n/a
42	TCF3	chr7:65669783-65670608	GM12878	blood:	n/a	chr7:65669991-65670001 chr7:65669989-65670003
43	CTCF	chr7:65670017-65670443	SK-N-SH_RA	brain:	n/a	n/a
44	CCNT2	chr7:65669914-65670859	K562	blood:	n/a	chr7:65670138-65670147 chr7:65669970-65669979 chr7:65670636-65670645
45	TAF1	chr7:65669882-65670511	SK-N-SH	brain:	n/a	n/a
46	TAF1	chr7:65670083-65670646	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr7:65669660-65670409	A549	lung:	n/a	chr7:65670022-65670031
48	PAX5	chr7:65669889-65670472	GM12878	blood:	n/a	chr7:65670193-65670211 chr7:65670205-65670215
49	POLR2A	chr7:65669964-65670599	HUVEC	blood vessel:	n/a	n/a
50	CHD2	chr7:65669718-65670476	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
TPST1	TF binding region

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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	116 gene(s)	inside rSNPs	diseases
4	esv3375675	chr7:65669142-65671690	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	1 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	chr7:65669400-65670200	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr7:65669400-65670600	Active TSS	Stomach Smooth Muscle	stomach
3	chr7:65669400-65670600	Bivalent/Poised TSS	Thymus	Thymus
4	chr7:65669400-65670800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr7:65669400-65671000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:65669400-65671000	Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr7:65669400-65671000	Active TSS	Fetal Kidney	kidney
8	chr7:65669400-65671200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:65669400-65671200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:65669400-65672200	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:65669400-65672400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:65669400-65673200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:65669600-65670200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
14	chr7:65669600-65670200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:65669600-65670200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr7:65669600-65670200	Flanking Active TSS	HMEC	breast
17	chr7:65669600-65670200	Flanking Active TSS	K562	blood
18	chr7:65669600-65670200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr7:65669600-65670400	Active TSS	Brain Germinal Matrix	brain
20	chr7:65669600-65670400	Active TSS	Right Ventricle	heart
21	chr7:65669600-65670600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr7:65669600-65670600	Active TSS	Fetal Intestine Large	intestine
23	chr7:65669600-65670600	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr7:65669600-65670800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr7:65669600-65670800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:65669600-65670800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr7:65669600-65670800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr7:65669600-65670800	Active TSS	Brain Substantia Nigra	brain
29	chr7:65669600-65671000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr7:65669600-65671000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:65669600-65671000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:65669600-65671000	Active TSS	Brain Angular Gyrus	brain
33	chr7:65669600-65671000	Active TSS	Colon Smooth Muscle	Colon
34	chr7:65669600-65671200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:65669600-65671200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:65669600-65671200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:65669600-65671200	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:65669600-65671200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:65669600-65671200	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr7:65669600-65671200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:65669600-65671200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:65669600-65671200	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr7:65669600-65671200	Active TSS	Esophagus	oesophagus
44	chr7:65669600-65671200	Active TSS	Fetal Brain Female	brain
45	chr7:65669600-65671200	Active TSS	Fetal Lung	lung
46	chr7:65669600-65671200	Active TSS	Ovary	ovary
47	chr7:65669600-65671400	Active TSS	Primary T cells from cord blood	blood
48	chr7:65669600-65671400	Active TSS	Brain Anterior Caudate	brain
49	chr7:65669600-65671400	Active TSS	Brain Cingulate Gyrus	brain
50	chr7:65669600-65671400	Active TSS	Placenta Amnion	Placenta Amnion

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