Variant report

Variant	rs564370360
Chromosome Location	chr7:150974210-150974211
allele	C/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	EGR1	chr7:150974034-150974552	ECC-1	luminal epithelium:	n/a	chr7:150974251-150974264 chr7:150974230-150974239 chr7:150974252-150974266
2	POLR2A	chr7:150974025-150974524	HCT-116	colon:	n/a	n/a
3	TRIM28	chr7:150974099-150974541	K562	blood:	n/a	n/a
4	ELF1	chr7:150974150-150974439	HepG2	liver:	n/a	n/a
5	ZBTB33	chr7:150974101-150974342	HCT-116	colon:	n/a	n/a
6	EGR1	chr7:150973955-150974783	HCT-116	colon:	n/a	chr7:150974639-150974654 chr7:150974251-150974264 chr7:150974640-150974653 chr7:150974230-150974239 chr7:150974252-150974266
7	POLR2A	chr7:150974003-150974294	A549	lung:	n/a	n/a
8	REST	chr7:150973959-150974852	H1-neurons	neurons:	n/a	chr7:150974634-150974647
9	RFX5	chr7:150974201-150974456	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr7:150974001-150974480	HEK293	kidney:	n/a	n/a
11	POLR2A	chr7:150974072-150974252	MCF-7	breast:	n/a	n/a
12	NRF1	chr7:150974119-150974426	K562	blood:	n/a	chr7:150974226-150974240 chr7:150974229-150974240
13	POLR2A	chr7:150973998-150974701	H1-neurons	neurons:	n/a	n/a
14	YY1	chr7:150974029-150974529	SK-N-SH_RA	brain:	n/a	chr7:150974131-150974145
15	HMGN3	chr7:150974183-150974513	K562	blood:	n/a	n/a
16	MAX	chr7:150974062-150974785	H1-hESC	embryonic stem cell:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
17	TEAD4	chr7:150974184-150974622	K562	blood:	n/a	n/a
18	MAX	chr7:150974184-150974637	K562	blood:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
19	FAM48A	chr7:150974126-150974507	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr7:150974028-150974365	A549	lung:	n/a	n/a
21	ELF1	chr7:150974139-150974492	GM12878	blood:	n/a	n/a
22	YY1	chr7:150974141-150974492	GM12892	blood:	n/a	n/a
23	YY1	chr7:150974144-150974624	HepG2	liver:	n/a	n/a
24	GABPA	chr7:150974025-150974543	H1-hESC	embryonic stem cell:	n/a	chr7:150974226-150974240
25	ZBTB7A	chr7:150974050-150974369	K562	blood:	n/a	n/a
26	MAX	chr7:150974098-150974802	A549	lung:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
27	TAF1	chr7:150974144-150974343	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr7:150973986-150974551	Raji	blood:	n/a	n/a
29	CBX3	chr7:150974161-150974766	K562	blood:	n/a	n/a
30	POLR2A	chr7:150974047-150974292	Hela-S3	cervix:	n/a	n/a
31	MAX	chr7:150974073-150974768	H1-hESC	embryonic stem cell:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
32	ZKSCAN1	chr7:150974197-150974404	Hela-S3	cervix:	n/a	n/a
33	NRF1	chr7:150974011-150974616	SK-N-SH	brain:	n/a	chr7:150974226-150974240 chr7:150974229-150974240
34	POLR2A	chr7:150973963-150974507	ProgFib	skin:	n/a	n/a
35	YY1	chr7:150974004-150974622	K562	blood:	n/a	chr7:150974131-150974145
36	MAX	chr7:150974051-150974710	ECC-1	luminal epithelium:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
37	NRF1	chr7:150974069-150974424	H1-hESC	embryonic stem cell:	n/a	chr7:150974226-150974240 chr7:150974229-150974240
38	ZNF143	chr7:150974182-150974420	K562	blood:	n/a	chr7:150974251-150974269
39	FAM48A	chr7:150974191-150974482	GM12878	blood:	n/a	n/a
40	EGR1	chr7:150974033-150974790	K562	blood:	n/a	chr7:150974639-150974654 chr7:150974251-150974264 chr7:150974640-150974653 chr7:150974230-150974239 chr7:150974252-150974266
41	POLR2A	chr7:150974079-150974259	A549	lung:	n/a	n/a
42	MAZ	chr7:150974141-150974489	K562	blood:	n/a	n/a
43	E2F6	chr7:150974114-150974621	K562	blood:	n/a	chr7:150974230-150974239 chr7:150974227-150974237
44	POLR2A	chr7:150974035-150974507	Gliobla	brain:	n/a	n/a
45	POLR2A	chr7:150973995-150974483	HCT-116	colon:	n/a	n/a
46	ELF1	chr7:150974015-150974620	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:150974004-150974559	NB4	blood:	n/a	n/a
48	POLR2A	chr7:150974002-150974377	ECC-1	luminal epithelium:	n/a	n/a
49	TEAD4	chr7:150974174-150974617	K562	blood:	n/a	n/a
50	RCOR1	chr7:150974164-150974436	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150972599..150974856-chr7:151038814..151040776,2	MCF-7	breast:
2	chr7:150971574..150974411-chr7:151038667..151040359,3	K562	blood:
3	chr7:150941689..150943266-chr7:150971664..150974365,2	K562	blood:
4	chr7:150944159..150946342-chr7:150972887..150975150,2	MCF-7	breast:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000082014	Chromatin interaction
ENSG00000013374	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
3	nsv465216	chr7:150951819-150991795	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv609036	chr7:150951819-150991795	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1023436	chr7:150967147-150997692	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1022782	chr7:150970748-150992935	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3403100	chr7:150972819-150975817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150970800-150975000	Enhancers	Spleen	Spleen
2	chr7:150972800-150974400	Active TSS	Rectal Smooth Muscle	rectum
3	chr7:150972800-150974800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:150973000-150974400	Active TSS	Brain Cingulate Gyrus	brain
5	chr7:150973200-150974400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr7:150973200-150974600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:150973200-150974800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:150973200-150974800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:150973200-150974800	Enhancers	Fetal Heart	heart
10	chr7:150973400-150974400	Active TSS	H9 Cell Line	embryonic stem cell
11	chr7:150973400-150974400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:150973400-150974400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
13	chr7:150973400-150974400	Active TSS	Brain Substantia Nigra	brain
14	chr7:150973600-150974400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:150973600-150974400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:150973600-150974400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr7:150973600-150974400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:150973600-150974400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:150973600-150974400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:150973600-150974400	Active TSS	Duodenum Mucosa	Duodenum
21	chr7:150973600-150974400	Active TSS	Fetal Brain Female	brain
22	chr7:150973600-150974400	Active TSS	Fetal Lung	lung
23	chr7:150973600-150974400	Active TSS	Pancreas	Pancrea
24	chr7:150973600-150974400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:150973600-150974400	Active TSS	HMEC	breast
26	chr7:150973600-150974400	Active TSS	Osteobl	bone
27	chr7:150973600-150974600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:150973600-150974600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr7:150973600-150974600	Bivalent/Poised TSS	Thymus	Thymus
30	chr7:150973600-150974800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr7:150973600-150974800	Active TSS	Hela-S3	cervix
32	chr7:150973800-150974400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr7:150973800-150974400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:150973800-150974400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:150973800-150974400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr7:150973800-150974400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:150973800-150974400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:150973800-150974400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr7:150973800-150974400	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr7:150973800-150974400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr7:150973800-150974400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr7:150973800-150974400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr7:150973800-150974400	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr7:150973800-150974400	Active TSS	Brain Anterior Caudate	brain
45	chr7:150973800-150974400	Active TSS	Brain Hippocampus Middle	brain
46	chr7:150973800-150974400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:150973800-150974400	Active TSS	Colon Smooth Muscle	Colon
48	chr7:150973800-150974400	Active TSS	Esophagus	oesophagus
49	chr7:150973800-150974400	Active TSS	Fetal Kidney	kidney
50	chr7:150973800-150974400	Bivalent/Poised TSS	Fetal Stomach	stomach

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