Variant report

Variant	rs537000964
Chromosome Location	chr7:100286939-100286940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100286654-100287004	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:100286910-100286946	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr7:100279071-100287739	K562	blood:	n/a	n/a
4	POLR2A	chr7:100286649-100288004	K562	blood:	n/a	n/a
5	POLR2A	chr7:100286218-100287013	K562	blood:	n/a	n/a
6	POLR2A	chr7:100286922-100287812	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr7:100286678-100287047	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100286908-100286958	GM12891	blood:	n/a
2	chr7:100286908-100286958	ovcar-3	ovarian:	n/a
3	chr7:100286908-100286958	GM12892	blood:	n/a
4	chr7:100286908-100286958	T-47D	breast:	n/a
5	chr7:100286908-100286958	Hela-S3	cervix:	n/a
6	chr7:100286908-100286958	HNPCEpiC	eye:	n/a
7	chr7:100286908-100286958	PrEC	prostate:	n/a
8	chr7:100286908-100286958	NHBE	bronchial:	n/a
9	chr7:100286908-100286958	HepG2	liver:	n/a
10	chr7:100286908-100286958	K562	blood:	n/a
11	chr7:100286908-100286958	ProgFib	skin:	n/a
12	chr7:100286908-100286958	ECC-1	luminal epithelium:	n/a
13	chr7:100286908-100286958	IMR90	lung:	fetal
14	chr7:100286908-100286958	AG04450	lung:	fetal
15	chr7:100286908-100286958	LNCaP	prostate:	n/a
16	chr7:100286908-100286958	AG09309	skin:	n/a
17	chr7:100286908-100286958	GM12878	blood:	n/a
18	chr7:100286908-100286958	HL-60	blood:	n/a
19	chr7:100286908-100286958	HCF	heart:	n/a
20	chr7:100286908-100286958	HCT-116	colon:	n/a
21	chr7:100286908-100286958	HPAEpiC	pulmonary alveolar:	n/a
22	chr7:100286908-100286958	CMK	blood:	n/a
23	chr7:100286908-100286958	PANC-1	pancreas:	n/a
24	chr7:100286908-100286958	SAEC	small airway:	n/a
25	chr7:100286908-100286958	HMEC	breast:	n/a
26	chr7:100286908-100286958	Caco-2	colon:	n/a
27	chr7:100286908-100286958	GM06990	blood:	n/a
28	chr7:100286908-100286958	HRPEpiC	eye:	n/a
29	chr7:100286908-100286958	HEEpiC	esophagus:	n/a
30	chr7:100286908-100286958	HEK293	kidney:	embryo
31	chr7:100286908-100286958	U87	brain:	n/a
32	chr7:100286908-100286958	Hepatocyte	liver:	n/a
33	chr7:100286908-100286958	NB4	blood:	n/a
34	chr7:100286908-100286958	HAEpiC	amniotic membrane:	n/a
35	chr7:100286908-100286958	RPTEC	kidney:	n/a
36	chr7:100286908-100286958	AG10803	skin:	n/a
37	chr7:100286908-100286958	AG09319	gingival:	n/a
38	chr7:100286908-100286958	SK-N-MC	brain:	n/a
39	chr7:100286908-100286958	AoSMC	blood vessel:	n/a
40	chr7:100286908-100286958	PFSK-1	brain:	n/a
41	chr7:100286908-100286958	SK-N-SH	brain:	n/a
42	chr7:100286908-100286958	MCF-7	breast:	n/a
43	chr7:100286908-100286958	SKMC	muscle:	n/a
44	chr7:100286908-100286958	HCPEpiC	choroid plexus:	n/a
45	chr7:100286908-100286958	NH-A	brain:	n/a
46	chr7:100286908-100286958	NHDF-neo	bronchial:	n/a
47	chr7:100286908-100286958	HIPEpiC	eye:	n/a
48	chr7:100286908-100286958	SK-N-SH_RA	brain:	n/a
49	chr7:100286908-100286958	GM19239	blood:	n/a
50	chr7:100286908-100286958	A549	lung:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100025163..100029050-chr7:100284721..100290800,5	MCF-7	breast:
2	chr7:100229407..100233868-chr7:100285575..100288686,3	MCF-7	breast:
3	chr7:100181696..100183356-chr7:100285003..100287484,2	K562	blood:
4	chr7:100200773..100203323-chr7:100286656..100289565,2	MCF-7	breast:
5	chr7:100182617..100185782-chr7:100284570..100287283,3	MCF-7	breast:
6	chr7:100222759..100227059-chr7:100284156..100289115,6	K562	blood:
7	chr7:100228701..100230503-chr7:100285337..100287602,2	K562	blood:
8	chr7:100198433..100204411-chr7:100285757..100293733,14	K562	blood:
9	chr7:100025899..100028913-chr7:100286592..100288668,3	K562	blood:
10	chr7:100284987..100287383-chr7:100301493..100305069,3	K562	blood:
11	chr7:100284400..100287604-chr7:100471903..100474319,4	MCF-7	breast:
12	chr7:100285374..100287070-chr7:100470986..100472980,2	K562	blood:

No data

Variant related genes	Relation type
GIGYF1	TF binding region
GIGYF1	CpG island
ENSG00000087087	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
3	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv888795	chr7:100266081-100298626	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv819414	chr7:100286538-100286987	Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region	10 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	chr7:100274000-100287000	Strong transcription	Lung	lung
2	chr7:100274200-100287600	Strong transcription	Placenta Amnion	Placenta Amnion
3	chr7:100274200-100288800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:100274200-100289200	Weak transcription	Fetal Kidney	kidney
5	chr7:100274200-100290400	Weak transcription	HSMMtube	muscle
6	chr7:100274400-100287400	Strong transcription	Brain Cingulate Gyrus	brain
7	chr7:100274400-100287400	Strong transcription	Brain Substantia Nigra	brain
8	chr7:100274400-100287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:100274400-100287800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:100274400-100287800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:100274400-100287800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:100274400-100288000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:100274400-100288000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr7:100274400-100288600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:100274600-100287000	Strong transcription	Fetal Lung	lung
16	chr7:100274600-100287200	Strong transcription	Dnd41	blood
17	chr7:100274600-100287600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:100274600-100287800	Weak transcription	Fetal Brain Male	brain
19	chr7:100274600-100288200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:100274800-100288600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:100275600-100287800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr7:100275800-100287000	Strong transcription	Liver	Liver
23	chr7:100276000-100287600	Strong transcription	Gastric	stomach
24	chr7:100276400-100288800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr7:100276400-100290000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr7:100277400-100287200	Strong transcription	Esophagus	oesophagus
27	chr7:100277400-100287600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:100277400-100288000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:100277600-100287200	Strong transcription	Placenta	Placenta
30	chr7:100277800-100287000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr7:100277800-100287200	Weak transcription	Primary B cells from cord blood	blood
32	chr7:100278400-100287000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr7:100278400-100287400	Strong transcription	Colonic Mucosa	Colon
34	chr7:100278400-100287800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:100278400-100287800	Strong transcription	Fetal Intestine Small	intestine
36	chr7:100278400-100288400	Strong transcription	Fetal Intestine Large	intestine
37	chr7:100278600-100288000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:100278800-100287600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr7:100278800-100288000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr7:100279200-100287000	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr7:100279400-100288400	Strong transcription	Fetal Stomach	stomach
42	chr7:100279600-100287200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:100279600-100287400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:100279800-100287200	Strong transcription	Primary T cells from cord blood	blood
45	chr7:100279800-100288400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:100280000-100287000	Strong transcription	Brain Anterior Caudate	brain
47	chr7:100280000-100287200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:100280000-100288800	Weak transcription	NHDF-Ad	bronchial
49	chr7:100280200-100287200	Strong transcription	Fetal Muscle Leg	muscle
50	chr7:100280400-100287000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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