Variant report

Variant	rs370810574
Chromosome Location	chr8:100026195-100026196
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	POLR2A	chr8:100024859-100026226	K562	blood:	n/a	n/a
2	POLR2A	chr8:100024474-100026200	GM12878	blood:	n/a	n/a
3	RCOR1	chr8:100024722-100026224	K562	blood:	n/a	n/a
4	RELA	chr8:100024707-100026231	GM19099	blood:	n/a	n/a
5	SIN3A	chr8:100024589-100026269	H1-hESC	embryonic stem cell:	n/a	chr8:100025205-100025218 chr8:100025835-100025844
6	BRCA1	chr8:100025226-100026216	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr8:100024608-100026341	MCF-7	breast:	n/a	n/a
8	TAF1	chr8:100024709-100026201	MCF-7	breast:	n/a	n/a
9	POLR2A	chr8:100024261-100026305	GM12891	blood:	n/a	n/a
10	MTA3	chr8:100024230-100026277	GM12878	blood:	n/a	n/a
11	ELF1	chr8:100024692-100026252	MCF-7	breast:	n/a	chr8:100025484-100025493 chr8:100025203-100025215 chr8:100025253-100025264 chr8:100025201-100025210
12	RFX5	chr8:100024859-100026215	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr8:100024754-100026202	ProgFib	skin:	n/a	n/a
14	PML	chr8:100024711-100026278	GM12878	blood:	n/a	n/a
15	STAT3	chr8:100026077-100026215	MCF10A-Er-Src	breast:	n/a	n/a
16	UBTF	chr8:100024670-100026303	K562	blood:	n/a	n/a
17	STAT1	chr8:100024602-100026201	Hela-S3	cervix:	n/a	chr8:100025660-100025669 chr8:100025783-100025791 chr8:100025026-100025038 chr8:100025661-100025670 chr8:100025655-100025675 chr8:100025824-100025831 chr8:100025661-100025669 chr8:100025655-100025675 chr8:100025659-100025670
18	ELF1	chr8:100024896-100026206	SK-N-SH	brain:	n/a	chr8:100025484-100025493 chr8:100025203-100025215 chr8:100025253-100025264 chr8:100025201-100025210
19	POLR2A	chr8:100024623-100026234	GM12892	blood:	n/a	n/a
20	POLR2A	chr8:100024791-100026212	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr8:100024695-100026228	K562	blood:	n/a	n/a
22	HDAC2	chr8:100024936-100026269	MCF-7	breast:	n/a	n/a
23	MAX	chr8:100024598-100026302	MCF-7	breast:	n/a	chr8:100025597-100025607
24	USF2	chr8:100025760-100026202	Hela-S3	cervix:	n/a	n/a
25	MYC	chr8:100024894-100026203	NB4	blood:	n/a	chr8:100025597-100025607
26	SIN3AK20	chr8:100024398-100026456	MCF-7	breast:	n/a	n/a
27	MYC	chr8:100024754-100026273	K562	blood:	n/a	chr8:100025597-100025607
28	GABPA	chr8:100024500-100026344	MCF-7	breast:	n/a	chr8:100025202-100025216
29	ELF1	chr8:100024649-100026279	MCF-7	breast:	n/a	chr8:100025484-100025493 chr8:100025203-100025215 chr8:100025253-100025264 chr8:100025201-100025210
30	POLR2A	chr8:100024340-100026203	MCF10A-Er-Src	breast:	n/a	n/a
31	RELA	chr8:100024791-100026238	GM15510	blood:	n/a	n/a
32	POLR2A	chr8:100024730-100026252	Raji	blood:	n/a	n/a
33	BCLAF1	chr8:100024708-100026259	GM12878	blood:	n/a	chr8:100025253-100025262 chr8:100025599-100025612 chr8:100024802-100024811 chr8:100025221-100025234 chr8:100025419-100025432 chr8:100025201-100025214 chr8:100025210-100025223
34	TBL1XR1	chr8:100024886-100026218	GM12878	blood:	n/a	n/a
35	POLR2A	chr8:100024641-100026215	PBDE	blood:	n/a	n/a
36	RCOR1	chr8:100024586-100027052	K562	blood:	n/a	n/a
37	TBP	chr8:100024714-100026213	K562	blood:	n/a	chr8:100025871-100025882
38	ZNF384	chr8:100025063-100027080	K562	blood:	n/a	n/a
39	MYC	chr8:100024352-100026261	K562	blood:	n/a	chr8:100025597-100025607
40	ATF2	chr8:100024655-100026274	GM12878	blood:	n/a	n/a
41	IRF1	chr8:100024407-100026287	K562	blood:	n/a	n/a
42	GATA1	chr8:100024141-100026319	PBDE	blood:	n/a	chr8:100024663-100024679
43	GABPA	chr8:100024784-100026273	SK-N-SH	brain:	n/a	chr8:100025202-100025216
44	RCOR1	chr8:100024773-100026297	Hela-S3	cervix:	n/a	n/a
45	TEAD4	chr8:100024618-100026305	K562	blood:	n/a	n/a
46	TBP	chr8:100024858-100026271	Hela-S3	cervix:	n/a	chr8:100025871-100025882
47	POLR2A	chr8:100024529-100026252	GM18505	blood:	n/a	n/a
48	JUND	chr8:100024689-100026331	K562	blood:	n/a	n/a
49	CHD1	chr8:100024865-100026237	GM12878	blood:	n/a	n/a
50	POLR2A	chr8:100024914-100026198	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:99952762..99963438-chr8:100019139..100031293,37	MCF-7	breast:
2	chr8:99953586..99962238-chr8:100023509..100028680,26	MCF-7	breast:
3	chr8:100013186..100018258-chr8:100022769..100026424,8	MCF-7	breast:
4	chr8:100025901..100029663-chr8:100033487..100035486,3	K562	blood:
5	chr8:100011149..100013712-chr8:100025594..100027308,2	K562	blood:
6	chr8:100024284..100027084-chr8:100113982..100120280,5	MCF-7	breast:
7	chr8:100025833..100028756-chr8:100100624..100103335,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253948	TF binding region
ENSG00000132549	Chromatin interaction
ENSG00000104375	Chromatin interaction
ENSG00000271930	Chromatin interaction
ENSG00000263842	Chromatin interaction
ENSG00000253180	Chromatin interaction
ENSG00000164920	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv611809	chr8:99925628-100093510	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	esv3384926	chr8:100026040-100027833	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100023200-100027200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:100023200-100027200	Active TSS	K562	blood
3	chr8:100023600-100027000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr8:100023800-100026400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:100024000-100026800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:100024000-100026800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:100024000-100027200	Active TSS	NHLF	lung
8	chr8:100024200-100026400	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr8:100024200-100026400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:100024200-100026400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:100024200-100026600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:100024200-100026600	Active TSS	NH-A	brain
13	chr8:100024200-100026800	Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:100024200-100027000	Active TSS	HSMMtube	muscle
15	chr8:100024400-100026200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr8:100024400-100026200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:100024400-100026200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:100024400-100026200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:100024400-100026200	Bivalent/Poised TSS	HepG2	liver
20	chr8:100024400-100026400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr8:100024400-100026400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:100024400-100026400	Active TSS	H9 Cell Line	embryonic stem cell
23	chr8:100024400-100026400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:100024400-100026400	Active TSS	Aorta	Aorta
25	chr8:100024400-100026800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:100024400-100026800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr8:100024400-100027000	Active TSS	Ovary	ovary
28	chr8:100024400-100027200	Active TSS	NHDF-Ad	bronchial
29	chr8:100024600-100026200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:100024600-100026200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:100024600-100026200	Active TSS	Esophagus	oesophagus
32	chr8:100024600-100026200	Active TSS	Fetal Muscle Trunk	muscle
33	chr8:100024600-100026200	Active TSS	Gastric	stomach
34	chr8:100024600-100026200	Active TSS	Left Ventricle	heart
35	chr8:100024600-100026200	Active TSS	Lung	lung
36	chr8:100024600-100026200	Active TSS	Placenta Amnion	Placenta Amnion
37	chr8:100024600-100026200	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr8:100024600-100026200	Active TSS	Small Intestine	intestine
39	chr8:100024600-100026200	Active TSS	Stomach Mucosa	stomach
40	chr8:100024600-100026200	Active TSS	NHEK	skin
41	chr8:100024600-100026400	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr8:100024600-100026400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:100024600-100026400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr8:100024600-100026400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:100024600-100026400	Active TSS	Brain Anterior Caudate	brain
46	chr8:100024600-100026400	Active TSS	Brain Cingulate Gyrus	brain
47	chr8:100024600-100026400	Active TSS	Brain Hippocampus Middle	brain
48	chr8:100024600-100026400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr8:100024600-100026400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:100024600-100026400	Active TSS	Colonic Mucosa	Colon

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