Variant report

Variant	rs528822961
Chromosome Location	chr7:65669866-65669867
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	EGR1	chr7:65669779-65670347	K562	blood:	n/a	chr7:65669971-65669984
2	MXI1	chr7:65669662-65670554	HepG2	liver:	n/a	chr7:65669993-65670002 chr7:65670034-65670049 chr7:65670032-65670047
3	RAD21	chr7:65669681-65670886	H1-hESC	embryonic stem cell:	n/a	chr7:65670747-65670759 chr7:65670059-65670073
4	MAX	chr7:65669722-65670567	A549	lung:	n/a	chr7:65670022-65670031
5	RUNX3	chr7:65669647-65670625	GM12878	blood:	n/a	n/a
6	SIN3A	chr7:65669573-65671475	H1-hESC	embryonic stem cell:	n/a	n/a
7	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
8	NFYA	chr7:65669860-65670936	Hela-S3	cervix:	n/a	chr7:65670243-65670257 chr7:65670242-65670254 chr7:65670243-65670258 chr7:65670243-65670258
9	EBF1	chr7:65669722-65670215	GM12878	blood:	n/a	n/a
10	MXI1	chr7:65669396-65672418	IMR90	lung:	n/a	chr7:65669993-65670002 chr7:65670034-65670049 chr7:65670032-65670047
11	EP300	chr7:65669789-65670552	GM12878	blood:	n/a	chr7:65670141-65670157
12	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
13	HCFC1	chr7:65669474-65670617	Hela-S3	cervix:	n/a	n/a
14	TCF3	chr7:65669783-65670608	GM12878	blood:	n/a	chr7:65669991-65670001 chr7:65669989-65670003
15	MAX	chr7:65669660-65670409	A549	lung:	n/a	chr7:65670022-65670031
16	CHD2	chr7:65669718-65670476	HepG2	liver:	n/a	n/a
17	CHD2	chr7:65669862-65670845	Hela-S3	cervix:	n/a	n/a
18	YY1	chr7:65669842-65670457	SK-N-SH_RA	brain:	n/a	chr7:65670063-65670074
19	MAZ	chr7:65669534-65671286	IMR90	lung:	n/a	chr7:65670022-65670031 chr7:65670851-65670860
20	CHD2	chr7:65669612-65670934	GM12878	blood:	n/a	n/a
21	RFX5	chr7:65669642-65670449	GM12878	blood:	n/a	chr7:65670033-65670048 chr7:65670030-65670045 chr7:65670031-65670045 chr7:65670034-65670043 chr7:65670032-65670049 chr7:65670033-65670048 chr7:65670033-65670048
22	PAX5	chr7:65669814-65670558	GM12878	blood:	n/a	chr7:65670193-65670211 chr7:65670205-65670215
23	RAD21	chr7:65669840-65671015	IMR90	lung:	n/a	chr7:65670747-65670759 chr7:65670059-65670073
24	ZBTB7A	chr7:65669754-65671001	ECC-1	luminal epithelium:	n/a	chr7:65670108-65670117 chr7:65670689-65670696
25	MAX	chr7:65669690-65670540	SK-N-SH	brain:	n/a	chr7:65670022-65670031
26	MAX	chr7:65669794-65670604	H1-hESC	embryonic stem cell:	n/a	chr7:65670022-65670031
27	HA-E2F1	chr7:65669796-65670635	MCF-7	breast:	n/a	chr7:65670245-65670254 chr7:65670179-65670188
28	SMC3	chr7:65669824-65670784	Hela-S3	cervix:	n/a	chr7:65669990-65670000 chr7:65670673-65670683
29	KAP1	chr7:65669814-65670308	U2OS	brain:	n/a	n/a
30	RFX5	chr7:65669822-65670457	H1-hESC	embryonic stem cell:	n/a	chr7:65670033-65670048 chr7:65670030-65670045 chr7:65670031-65670045 chr7:65670034-65670043 chr7:65670032-65670049 chr7:65670033-65670048 chr7:65670033-65670048
31	TAF1	chr7:65669857-65670733	HepG2	liver:	n/a	n/a
32	BRCA1	chr7:65669843-65670427	GM12878	blood:	n/a	n/a
33	TAF1	chr7:65669771-65670815	ECC-1	luminal epithelium:	n/a	n/a
34	SMC3	chr7:65669507-65669994	HepG2	liver:	n/a	n/a
35	TAF1	chr7:65669801-65671015	H1-neurons	neurons:	n/a	n/a
36	CTCF	chr7:65669780-65669930	RPTEC	kidney:	n/a	n/a
37	SIN3AK20	chr7:65669726-65670496	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr7:65669618-65671079	HepG2	liver:	n/a	n/a
39	REST	chr7:65669286-65671224	H1-neurons	neurons:	n/a	chr7:65670936-65670949
40	RFX5	chr7:65669831-65670524	HepG2	liver:	n/a	chr7:65670033-65670048 chr7:65670030-65670045 chr7:65670031-65670045 chr7:65670034-65670043 chr7:65670032-65670049 chr7:65670033-65670048 chr7:65670033-65670048
41	MAX	chr7:65669730-65670798	MCF-7	breast:	n/a	chr7:65670022-65670031
42	USF2	chr7:65669759-65669887	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:65669859-65670549	HepG2	liver:	n/a	n/a
44	RELA	chr7:65669861-65670525	GM19193	blood:	n/a	n/a
45	REST	chr7:65669495-65671020	H1-neurons	neurons:	n/a	chr7:65670936-65670949
46	MAX	chr7:65669803-65670618	H1-hESC	embryonic stem cell:	n/a	chr7:65670022-65670031
47	FOXA2	chr7:65669661-65669969	HepG2	liver:	n/a	n/a
48	SMC3	chr7:65669820-65670483	GM12878	blood:	n/a	chr7:65669990-65670000
49	HDAC2	chr7:65669633-65670456	HepG2	liver:	n/a	chr7:65669684-65669698 chr7:65669708-65669722
50	ZNF263	chr7:65669839-65670571	HEK293-T-REx	kidney:	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	chr7:65669400-65670000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:65669400-65670000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:65669400-65670000	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr7:65669400-65670000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:65669400-65670000	Flanking Active TSS	Liver	Liver
6	chr7:65669400-65670000	Flanking Active TSS	GM12878-XiMat	blood
7	chr7:65669400-65670000	Flanking Active TSS	Hela-S3	cervix
8	chr7:65669400-65670200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr7:65669400-65670600	Active TSS	Stomach Smooth Muscle	stomach
10	chr7:65669400-65670600	Bivalent/Poised TSS	Thymus	Thymus
11	chr7:65669400-65670800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr7:65669400-65671000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:65669400-65671000	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr7:65669400-65671000	Active TSS	Fetal Kidney	kidney
15	chr7:65669400-65671200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:65669400-65671200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:65669400-65672200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:65669400-65672400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:65669400-65673200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:65669600-65670000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:65669600-65670000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
22	chr7:65669600-65670000	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr7:65669600-65670000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
24	chr7:65669600-65670000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr7:65669600-65670000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:65669600-65670000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr7:65669600-65670000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
28	chr7:65669600-65670000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:65669600-65670000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:65669600-65670000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr7:65669600-65670000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:65669600-65670000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:65669600-65670000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr7:65669600-65670000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr7:65669600-65670000	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr7:65669600-65670000	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr7:65669600-65670000	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr7:65669600-65670000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr7:65669600-65670000	Flanking Active TSS	HUVEC	blood vessel
40	chr7:65669600-65670000	Flanking Active TSS	NH-A	brain
41	chr7:65669600-65670000	Flanking Active TSS	NHEK	skin
42	chr7:65669600-65670000	Flanking Active TSS	NHLF	lung
43	chr7:65669600-65670000	Flanking Active TSS	Osteobl	bone
44	chr7:65669600-65670200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
45	chr7:65669600-65670200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr7:65669600-65670200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr7:65669600-65670200	Flanking Active TSS	HMEC	breast
48	chr7:65669600-65670200	Flanking Active TSS	K562	blood
49	chr7:65669600-65670200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
50	chr7:65669600-65670400	Active TSS	Brain Germinal Matrix	brain

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