Variant report

Variant	rs373296720
Chromosome Location	chr1:75197807-75197808
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr1:75196910-75198287	GM12878	blood:	n/a	n/a
2	CHD2	chr1:75197213-75198218	GM12878	blood:	n/a	n/a
3	BATF	chr1:75197687-75198036	GM12878	blood:	n/a	n/a
4	POLR2A	chr1:75197631-75198274	GM12892	blood:	n/a	n/a
5	HEY1	chr1:75197075-75198245	HepG2	liver:	n/a	n/a
6	RELA	chr1:75196976-75199695	GM19193	blood:	n/a	n/a
7	POLR2A	chr1:75197639-75198278	GM12891	blood:	n/a	n/a
8	POU2F2	chr1:75197678-75198164	GM12878	blood:	n/a	n/a
9	EP300	chr1:75197593-75198249	GM12878	blood:	n/a	chr1:75198210-75198226
10	RELA	chr1:75197065-75199714	GM15510	blood:	n/a	n/a
11	TCF12	chr1:75197534-75198290	GM12878	blood:	n/a	n/a
12	NFIC	chr1:75197433-75198264	GM12878	blood:	n/a	n/a
13	RXRA	chr1:75197620-75198221	GM12878	blood:	n/a	n/a
14	PBX3	chr1:75197698-75198158	GM12878	blood:	n/a	n/a
15	FOXM1	chr1:75197367-75198339	GM12878	blood:	n/a	n/a
16	POU2F2	chr1:75197705-75198232	GM12878	blood:	n/a	n/a
17	RELA	chr1:75197077-75199725	GM12891	blood:	n/a	n/a
18	ZEB1	chr1:75197553-75197951	GM12878	blood:	n/a	n/a
19	HEY1	chr1:75196948-75198153	HepG2	liver:	n/a	n/a
20	RELA	chr1:75196990-75199882	GM12878	blood:	n/a	n/a
21	MTA3	chr1:75197225-75199820	GM12878	blood:	n/a	n/a
22	RELA	chr1:75197016-75199699	GM19099	blood:	n/a	n/a
23	POLR2A	chr1:75197570-75198297	GM12892	blood:	n/a	n/a
24	POLR2A	chr1:75196850-75200950	GM12878	blood:	n/a	n/a
25	EBF1	chr1:75197606-75198573	GM12878	blood:	n/a	n/a
26	POLR2A	chr1:75196955-75199695	HepG2	liver:	n/a	n/a
27	POLR2A	chr1:75197774-75197932	A549	lung:	n/a	n/a
28	POU2F2	chr1:75197580-75198259	GM12891	blood:	n/a	n/a
29	POLR2A	chr1:75196987-75201662	GM12891	blood:	n/a	n/a
30	PBX3	chr1:75197700-75198091	GM12878	blood:	n/a	n/a
31	RELA	chr1:75197115-75200040	GM18505	blood:	n/a	n/a
32	POLR2A	chr1:75197128-75198271	GM12891	blood:	n/a	n/a
33	PAX5	chr1:75197652-75198145	GM12878	blood:	n/a	n/a
34	POLR2A	chr1:75197719-75198299	GM12878	blood:	n/a	n/a
35	PAX5	chr1:75197505-75199249	GM12878	blood:	n/a	n/a
36	POU2F2	chr1:75197575-75198279	GM12878	blood:	n/a	n/a
37	SP1	chr1:75197516-75198246	GM12878	blood:	n/a	n/a
38	CEBPB	chr1:75197691-75198159	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:75197630-75198210	GM12891	blood:	n/a	n/a
40	POLR2A	chr1:75197771-75198090	A549	lung:	n/a	n/a
41	RELA	chr1:75196917-75199189	GM18526	blood:	n/a	n/a
42	POLR2A	chr1:75197396-75198248	GM12892	blood:	n/a	n/a
43	TCF12	chr1:75197690-75198243	H1-hESC	embryonic stem cell:	n/a	n/a
44	IRF4	chr1:75197630-75198247	GM12878	blood:	n/a	n/a
45	CEBPB	chr1:75197458-75199569	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:75197555-75198252	GM12878	blood:	n/a	n/a
47	NFIC	chr1:75197081-75198270	GM12878	blood:	n/a	n/a
48	MTA3	chr1:75197376-75197824	GM12878	blood:	n/a	n/a
49	FOXA1	chr1:75196970-75198037	HepG2	liver:	n/a	n/a
50	IRF4	chr1:75197628-75198202	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:75197640..75200637-chr1:75200867..75204722,5	MCF-7	breast:
2	chr1:75197237..75200127-chr1:76254006..76255529,2	K562	blood:
3	chr1:75197578..75200968-chr1:75201632..75206969,6	MCF-7	breast:

No data

Variant related genes	Relation type
TYW3	TF binding region
ENSG00000201487	Chromatin interaction
ENSG00000162623	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1838134	chr1:75197533-75198602	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	nsv546579	chr1:75197533-75200486	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75174800-75198000	Weak transcription	Thymus	Thymus
2	chr1:75183000-75198400	Weak transcription	Fetal Brain Male	brain
3	chr1:75188200-75198000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:75188400-75198000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:75192200-75198000	Weak transcription	Gastric	stomach
6	chr1:75192400-75198000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr1:75192400-75198000	Weak transcription	Fetal Thymus	thymus
8	chr1:75194600-75198200	Weak transcription	Small Intestine	intestine
9	chr1:75194800-75198000	Weak transcription	Brain Substantia Nigra	brain
10	chr1:75194800-75198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:75195000-75198000	Weak transcription	Esophagus	oesophagus
12	chr1:75195600-75198000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:75195600-75200400	Active TSS	A549	lung
14	chr1:75195800-75198000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:75195800-75198400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:75196200-75198000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:75196400-75198000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:75196400-75198200	Weak transcription	HSMMtube	muscle
19	chr1:75196400-75198400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:75196400-75199600	Active TSS	Fetal Kidney	kidney
21	chr1:75196600-75198400	Active TSS	HepG2	liver
22	chr1:75196800-75198000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:75196800-75198600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:75196800-75200000	Active TSS	Fetal Intestine Large	intestine
25	chr1:75197000-75198000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:75197000-75198200	Enhancers	Fetal Lung	lung
27	chr1:75197000-75198200	Flanking Active TSS	HUVEC	blood vessel
28	chr1:75197000-75199000	Active TSS	Stomach Smooth Muscle	stomach
29	chr1:75197000-75199600	Active TSS	Fetal Intestine Small	intestine
30	chr1:75197000-75199600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr1:75197200-75198000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:75197200-75198000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:75197200-75198000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:75197200-75198000	Enhancers	Primary hematopoietic stem cells	blood
35	chr1:75197200-75198000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:75197200-75198000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:75197200-75198000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:75197200-75198000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:75197200-75198000	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:75197200-75198000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr1:75197200-75198000	Enhancers	Lung	lung
42	chr1:75197200-75198000	Flanking Active TSS	K562	blood
43	chr1:75197200-75198200	Enhancers	Primary T cells from cord blood	blood
44	chr1:75197200-75198200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:75197200-75198400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:75197200-75198400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:75197200-75198400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:75197200-75199600	Active TSS	Pancreas	Pancrea
49	chr1:75197200-75199800	Active TSS	Colonic Mucosa	Colon
50	chr1:75197200-75200000	Active TSS	Right Atrium	heart

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