Variant report

Variant	rs572870050
Chromosome Location	chr7:150974111-150974112
allele	A/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	chr7:150974034-150974552	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	ZBTB33	chr7:150974101-150974342	HCT-116	colon:	n/a	n/a
5	EGR1	chr7:150973955-150974783	HCT-116	colon:	n/a	chr7:150974639-150974654 chr7:150974251-150974264 chr7:150974640-150974653 chr7:150974230-150974239 chr7:150974252-150974266
6	POLR2A	chr7:150974003-150974294	A549	lung:	n/a	n/a
7	REST	chr7:150973959-150974852	H1-neurons	neurons:	n/a	chr7:150974634-150974647
8	POLR2A	chr7:150974001-150974480	HEK293	kidney:	n/a	n/a
9	POLR2A	chr7:150974072-150974252	MCF-7	breast:	n/a	n/a
10	POLR2A	chr7:150973998-150974701	H1-neurons	neurons:	n/a	n/a
11	YY1	chr7:150974029-150974529	SK-N-SH_RA	brain:	n/a	chr7:150974131-150974145
12	MAX	chr7:150974062-150974785	H1-hESC	embryonic stem cell:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
13	POLR2A	chr7:150974028-150974365	A549	lung:	n/a	n/a
14	GABPA	chr7:150974025-150974543	H1-hESC	embryonic stem cell:	n/a	chr7:150974226-150974240
15	ZBTB7A	chr7:150974050-150974369	K562	blood:	n/a	n/a
16	MAX	chr7:150974098-150974802	A549	lung:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
17	POLR2A	chr7:150973986-150974551	Raji	blood:	n/a	n/a
18	POLR2A	chr7:150974047-150974292	Hela-S3	cervix:	n/a	n/a
19	MAX	chr7:150974073-150974768	H1-hESC	embryonic stem cell:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
20	NRF1	chr7:150974011-150974616	SK-N-SH	brain:	n/a	chr7:150974226-150974240 chr7:150974229-150974240
21	POLR2A	chr7:150973963-150974507	ProgFib	skin:	n/a	n/a
22	YY1	chr7:150974004-150974622	K562	blood:	n/a	chr7:150974131-150974145
23	MAX	chr7:150974051-150974710	ECC-1	luminal epithelium:	n/a	chr7:150974524-150974533 chr7:150974522-150974532 chr7:150974523-150974530
24	NRF1	chr7:150974069-150974424	H1-hESC	embryonic stem cell:	n/a	chr7:150974226-150974240 chr7:150974229-150974240
25	EGR1	chr7:150974033-150974790	K562	blood:	n/a	chr7:150974639-150974654 chr7:150974251-150974264 chr7:150974640-150974653 chr7:150974230-150974239 chr7:150974252-150974266
26	POLR2A	chr7:150974079-150974259	A549	lung:	n/a	n/a
27	POLR2A	chr7:150974035-150974507	Gliobla	brain:	n/a	n/a
28	POLR2A	chr7:150973995-150974483	HCT-116	colon:	n/a	n/a
29	ELF1	chr7:150974015-150974620	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:150974004-150974559	NB4	blood:	n/a	n/a
31	POLR2A	chr7:150974002-150974377	ECC-1	luminal epithelium:	n/a	n/a
32	YY1	chr7:150974075-150974438	H1-hESC	embryonic stem cell:	n/a	chr7:150974131-150974145
33	EGR1	chr7:150974048-150974624	K562	blood:	n/a	chr7:150974251-150974264 chr7:150974230-150974239 chr7:150974252-150974266
34	EGR1	chr7:150974054-150974481	ECC-1	luminal epithelium:	n/a	chr7:150974251-150974264 chr7:150974230-150974239 chr7:150974252-150974266
35	POLR2A	chr7:150974006-150974416	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr7:150974057-150974379	A549	lung:	n/a	n/a
37	POLR2A	chr7:150974077-150974415	MCF10A-Er-Src	breast:	n/a	n/a
38	ZNF263	chr7:150972799-150975095	HEK293-T-REx	kidney:	n/a	chr7:150973492-150973501 chr7:150973635-150973644
39	POLR2A	chr7:150974093-150974500	MCF10A-Er-Src	breast:	n/a	n/a
40	YY1	chr7:150974072-150974628	SK-N-SH_RA	brain:	n/a	chr7:150974131-150974145
41	YY1	chr7:150974073-150974444	HCT-116	colon:	n/a	chr7:150974131-150974145
42	CREB1	chr7:150974056-150974510	A549	lung:	n/a	n/a
43	POLR2A	chr7:150974081-150974454	MCF-7	breast:	n/a	n/a
44	POLR2A	chr7:150973977-150974694	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr7:150974026-150974577	MCF-7	breast:	n/a	n/a
46	CCNT2	chr7:150974070-150974376	K562	blood:	n/a	n/a
47	POLR2A	chr7:150974049-150974447	SK-N-SH	brain:	n/a	n/a
48	STAT1	chr7:150974052-150974722	Hela-S3	cervix:	n/a	n/a
49	YY1	chr7:150974095-150974448	GM12891	blood:	n/a	chr7:150974131-150974145
50	MAZ	chr7:150973755-150974489	IMR90	lung:	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:
5	chr7:150922541..150925891-chr7:150969834..150974111,4	K562	blood:
6	chr7:150809552..150813512-chr7:150971172..150974114,3	MCF-7	breast:

Variant related genes	Relation type
SMARCD3	TF binding region
ENSG00000013374	Chromatin interaction
ENSG00000033050	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000082014	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150970000-150974200	Weak transcription	Primary T cells from cord blood	blood
2	chr7:150970800-150975000	Enhancers	Spleen	Spleen
3	chr7:150972600-150974200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr7:150972800-150974400	Active TSS	Rectal Smooth Muscle	rectum
5	chr7:150972800-150974800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:150973000-150974400	Active TSS	Brain Cingulate Gyrus	brain
7	chr7:150973200-150974200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:150973200-150974200	Weak transcription	Liver	Liver
9	chr7:150973200-150974400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:150973200-150974600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:150973200-150974800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:150973200-150974800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:150973200-150974800	Enhancers	Fetal Heart	heart
14	chr7:150973400-150974200	Enhancers	Adipose Nuclei	Adipose
15	chr7:150973400-150974400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr7:150973400-150974400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:150973400-150974400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr7:150973400-150974400	Active TSS	Brain Substantia Nigra	brain
19	chr7:150973600-150974200	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
20	chr7:150973600-150974200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
21	chr7:150973600-150974200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
22	chr7:150973600-150974400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr7:150973600-150974400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:150973600-150974400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr7:150973600-150974400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:150973600-150974400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:150973600-150974400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:150973600-150974400	Active TSS	Duodenum Mucosa	Duodenum
29	chr7:150973600-150974400	Active TSS	Fetal Brain Female	brain
30	chr7:150973600-150974400	Active TSS	Fetal Lung	lung
31	chr7:150973600-150974400	Active TSS	Pancreas	Pancrea
32	chr7:150973600-150974400	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr7:150973600-150974400	Active TSS	HMEC	breast
34	chr7:150973600-150974400	Active TSS	Osteobl	bone
35	chr7:150973600-150974600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:150973600-150974600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:150973600-150974600	Bivalent/Poised TSS	Thymus	Thymus
38	chr7:150973600-150974800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr7:150973600-150974800	Active TSS	Hela-S3	cervix
40	chr7:150973800-150974200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:150973800-150974200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:150973800-150974200	Active TSS	Brain Germinal Matrix	brain
43	chr7:150973800-150974200	Active TSS	Stomach Smooth Muscle	stomach
44	chr7:150973800-150974200	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr7:150973800-150974400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr7:150973800-150974400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:150973800-150974400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:150973800-150974400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr7:150973800-150974400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr7:150973800-150974400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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