Variant report

Variant	rs189624944
Chromosome Location	chr1:75198210-75198211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 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	POLR2A	chr1:75197631-75198274	GM12892	blood:	n/a	n/a
4	HEY1	chr1:75197075-75198245	HepG2	liver:	n/a	n/a
5	RELA	chr1:75196976-75199695	GM19193	blood:	n/a	n/a
6	POLR2A	chr1:75197639-75198278	GM12891	blood:	n/a	n/a
7	EP300	chr1:75197593-75198249	GM12878	blood:	n/a	chr1:75198210-75198226
8	RELA	chr1:75197065-75199714	GM15510	blood:	n/a	n/a
9	TCF12	chr1:75197534-75198290	GM12878	blood:	n/a	n/a
10	NFIC	chr1:75197433-75198264	GM12878	blood:	n/a	n/a
11	RXRA	chr1:75197620-75198221	GM12878	blood:	n/a	n/a
12	FOXM1	chr1:75197367-75198339	GM12878	blood:	n/a	n/a
13	POU2F2	chr1:75197705-75198232	GM12878	blood:	n/a	n/a
14	RCOR1	chr1:75198071-75199802	GM12878	blood:	n/a	n/a
15	RELA	chr1:75197077-75199725	GM12891	blood:	n/a	n/a
16	RELA	chr1:75196990-75199882	GM12878	blood:	n/a	n/a
17	POLR2A	chr1:75198155-75199687	Hela-S3	cervix:	n/a	n/a
18	SIN3A	chr1:75198056-75199697	H1-hESC	embryonic stem cell:	n/a	n/a
19	MTA3	chr1:75197225-75199820	GM12878	blood:	n/a	n/a
20	RELA	chr1:75197016-75199699	GM19099	blood:	n/a	n/a
21	POLR2A	chr1:75197570-75198297	GM12892	blood:	n/a	n/a
22	POLR2A	chr1:75196850-75200950	GM12878	blood:	n/a	n/a
23	EBF1	chr1:75197606-75198573	GM12878	blood:	n/a	n/a
24	POLR2A	chr1:75197951-75199663	GM12892	blood:	n/a	n/a
25	POLR2A	chr1:75196955-75199695	HepG2	liver:	n/a	n/a
26	POU2F2	chr1:75197580-75198259	GM12891	blood:	n/a	n/a
27	POLR2A	chr1:75196987-75201662	GM12891	blood:	n/a	n/a
28	TCF12	chr1:75198020-75198237	H1-hESC	embryonic stem cell:	n/a	n/a
29	STAT5A	chr1:75197878-75198258	GM12878	blood:	n/a	n/a
30	RELA	chr1:75197115-75200040	GM18505	blood:	n/a	n/a
31	POLR2A	chr1:75197128-75198271	GM12891	blood:	n/a	n/a
32	POLR2A	chr1:75198066-75199661	GM18526	blood:	n/a	n/a
33	POLR2A	chr1:75197719-75198299	GM12878	blood:	n/a	n/a
34	MAZ	chr1:75197982-75199768	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	POLR2A	chr1:75197978-75198266	K562	blood:	n/a	n/a
39	ATF2	chr1:75197859-75198241	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:75197630-75198210	GM12891	blood:	n/a	n/a
41	POLR2A	chr1:75198022-75199646	HepG2	liver:	n/a	n/a
42	RELA	chr1:75196917-75199189	GM18526	blood:	n/a	n/a
43	POLR2A	chr1:75197396-75198248	GM12892	blood:	n/a	n/a
44	TCF12	chr1:75197690-75198243	H1-hESC	embryonic stem cell:	n/a	n/a
45	IRF4	chr1:75197630-75198247	GM12878	blood:	n/a	n/a
46	CEBPB	chr1:75197458-75199569	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:75197555-75198252	GM12878	blood:	n/a	n/a
48	NFIC	chr1:75197081-75198270	GM12878	blood:	n/a	n/a
49	POLR2A	chr1:75198198-75198250	Hela-S3	cervix:	n/a	n/a
50	BCL3	chr1:75197573-75198252	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
ENSG00000162623	Chromatin interaction
ENSG00000201487	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	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
7	esv10394	chr1:75198172-75198656	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75183000-75198400	Weak transcription	Fetal Brain Male	brain
2	chr1:75195600-75200400	Active TSS	A549	lung
3	chr1:75195800-75198400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:75196400-75198400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr1:75196400-75199600	Active TSS	Fetal Kidney	kidney
6	chr1:75196600-75198400	Active TSS	HepG2	liver
7	chr1:75196800-75198600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:75196800-75200000	Active TSS	Fetal Intestine Large	intestine
9	chr1:75197000-75199000	Active TSS	Stomach Smooth Muscle	stomach
10	chr1:75197000-75199600	Active TSS	Fetal Intestine Small	intestine
11	chr1:75197000-75199600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:75197200-75198400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:75197200-75198400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:75197200-75198400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:75197200-75199600	Active TSS	Pancreas	Pancrea
16	chr1:75197200-75199800	Active TSS	Colonic Mucosa	Colon
17	chr1:75197200-75200000	Active TSS	Right Atrium	heart
18	chr1:75197200-75200400	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr1:75197400-75198400	Enhancers	Spleen	Spleen
20	chr1:75197400-75200000	Active TSS	Osteobl	bone
21	chr1:75197600-75199600	Active TSS	Left Ventricle	heart
22	chr1:75197600-75199600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr1:75197600-75199800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:75197600-75199800	Active TSS	Aorta	Aorta
25	chr1:75197600-75200000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:75197600-75200000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:75197600-75200000	Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:75197600-75200000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:75197600-75200200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:75197600-75200200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:75197600-75200200	Active TSS	Ovary	ovary
32	chr1:75197600-75200400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:75197600-75200600	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:75197800-75198400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:75197800-75198400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:75197800-75198400	Weak transcription	Fetal Heart	heart
37	chr1:75197800-75198800	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr1:75197800-75199600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:75197800-75199600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr1:75197800-75199600	Active TSS	Liver	Liver
41	chr1:75197800-75199600	Active TSS	Colon Smooth Muscle	Colon
42	chr1:75197800-75199600	Active TSS	Duodenum Mucosa	Duodenum
43	chr1:75197800-75199600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:75197800-75199600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr1:75197800-75199600	Active TSS	Rectal Smooth Muscle	rectum
46	chr1:75197800-75199800	Active TSS	NHEK	skin
47	chr1:75197800-75200000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:75197800-75200000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:75197800-75200200	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:75197800-75200200	Active TSS	NHDF-Ad	bronchial

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