Variant report

Variant	rs145849139
Chromosome Location	chr1:173445581-173445582
allele	C/T
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	TRIM28	chr1:173445323-173446776	K562	blood:	n/a	n/a
2	POLR2A	chr1:173445243-173447743	Hela-S3	cervix:	n/a	n/a
3	FOS	chr1:173444797-173445874	MCF10A-Er-Src	breast:	n/a	chr1:173445057-173445067 chr1:173445057-173445067
4	GATA3	chr1:173445489-173445753	SH-SY5Y	brain:	n/a	n/a
5	RUNX3	chr1:173445497-173446361	GM12878	blood:	n/a	n/a
6	ZKSCAN1	chr1:173444907-173447574	Hela-S3	cervix:	n/a	n/a
7	ZNF143	chr1:173445426-173446204	K562	blood:	n/a	n/a
8	CBX3	chr1:173444903-173446307	K562	blood:	n/a	chr1:173444947-173444958
9	TEAD4	chr1:173445087-173446288	K562	blood:	n/a	n/a
10	MXI1	chr1:173444253-173448100	IMR90	lung:	n/a	chr1:173447831-173447846
11	BHLHE40	chr1:173444953-173447722	K562	blood:	n/a	chr1:173446795-173446811
12	NR2F2	chr1:173445330-173446336	K562	blood:	n/a	n/a
13	MAX	chr1:173445044-173447710	Hela-S3	cervix:	n/a	n/a
14	USF2	chr1:173444976-173446389	Hela-S3	cervix:	n/a	n/a
15	KAP1	chr1:173444758-173446206	HEK293	kidney:	n/a	n/a
16	SMC3	chr1:173444910-173448008	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr1:173445575-173446689	Hela-S3	cervix:	n/a	n/a
18	USF2	chr1:173445479-173445662	K562	blood:	n/a	n/a
19	SIN3A	chr1:173445410-173447767	H1-hESC	embryonic stem cell:	n/a	chr1:173447160-173447168 chr1:173447668-173447676 chr1:173446722-173446733
20	EGR1	chr1:173445436-173445694	K562	blood:	n/a	chr1:173445601-173445614
21	USF1	chr1:173445153-173446616	K562	blood:	n/a	chr1:173446173-173446184
22	JUN	chr1:173444105-173448462	K562	blood:	n/a	chr1:173446953-173446961 chr1:173445057-173445067 chr1:173447039-173447048 chr1:173445057-173445067
23	EP300	chr1:173444878-173445682	K562	blood:	n/a	chr1:173445337-173445353
24	HCFC1	chr1:173444740-173448059	Hela-S3	cervix:	n/a	n/a
25	GTF2F1	chr1:173444906-173447824	Hela-S3	cervix:	n/a	n/a
26	MTA3	chr1:173445401-173446289	GM12878	blood:	n/a	n/a
27	MXI1	chr1:173444135-173448173	SK-N-SH	brain:	n/a	chr1:173447831-173447846
28	MAZ	chr1:173444567-173447830	IMR90	lung:	n/a	n/a
29	PML	chr1:173445529-173446981	GM12878	blood:	n/a	n/a
30	GATA2	chr1:173444874-173446246	SH-SY5Y	brain:	n/a	chr1:173445349-173445356
31	RCOR1	chr1:173445253-173446691	K562	blood:	n/a	n/a
32	MXI1	chr1:173445530-173445713	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:173444743..173447866-chr1:173792301..173795321,5	MCF-7	breast:
2	chr1:173442552..173449186-chr1:173835087..173838637,8	MCF-7	breast:
3	chr1:173444678..173448018-chr1:173835571..173838629,5	K562	blood:
4	chr1:173445302..173447387-chr1:173760235..173762454,2	MCF-7	breast:
5	chr1:173442536..173447801-chr1:173833439..173838851,7	K562	blood:
6	chr1:173444899..173448691-chr1:173990820..173993753,4	MCF-7	breast:
7	chr1:173445270..173447365-chr22:21995394..21997975,2	K562	blood:
8	chr1:173443316..173450639-chr1:173791413..173797919,15	K562	blood:
9	chr1:173443428..173450639-chr1:173791407..173797248,10	K562	blood:
10	chr1:173445295..173447440-chr17:58469252..58471783,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRDX6-2	chr1:173445426-173445586	NONHSAT007638

Variant related genes	Relation type
PRDX6	TF binding region
ENSG00000117593	Chromatin interaction
ENSG00000200674	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000208317	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv3356084	chr1:173445354-173448202	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr1:173440600-173445800	Weak transcription	Spleen	Spleen
2	chr1:173443600-173445800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:173443600-173447400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:173443600-173447800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:173443800-173447600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:173444000-173448000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:173444200-173445600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:173444200-173445600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr1:173444200-173445800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr1:173444200-173445800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:173444200-173446000	Flanking Active TSS	Liver	Liver
12	chr1:173444200-173447400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:173444200-173447400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:173444400-173445600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:173444400-173445600	Flanking Active TSS	NH-A	brain
16	chr1:173444400-173445600	Flanking Active TSS	Osteobl	bone
17	chr1:173444400-173445800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:173444400-173445800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:173444400-173446200	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr1:173444400-173448600	Active TSS	HSMMtube	muscle
21	chr1:173444600-173445600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr1:173444600-173445600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr1:173444600-173445600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:173444600-173445600	Flanking Active TSS	A549	lung
25	chr1:173444600-173445600	Flanking Active TSS	NHEK	skin
26	chr1:173444600-173445800	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr1:173444600-173445800	Flanking Active TSS	Fetal Heart	heart
28	chr1:173444600-173445800	Flanking Active TSS	Hela-S3	cervix
29	chr1:173444600-173445800	Flanking Active TSS	HMEC	breast
30	chr1:173444600-173445800	Flanking Active TSS	HUVEC	blood vessel
31	chr1:173444600-173447400	Active TSS	Brain Angular Gyrus	brain
32	chr1:173444800-173445600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:173444800-173445600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:173444800-173445600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr1:173444800-173445600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr1:173444800-173445600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:173444800-173445600	Flanking Active TSS	K562	blood
38	chr1:173444800-173445800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:173444800-173445800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:173444800-173445800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr1:173444800-173445800	Flanking Active TSS	Dnd41	blood
42	chr1:173444800-173449000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:173445000-173445600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr1:173445000-173445600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:173445000-173445600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:173445000-173445600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr1:173445000-173445600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:173445000-173445600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:173445000-173445600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:173445000-173445600	Flanking Active TSS	Brain Cingulate Gyrus	brain

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