Variant report

Variant	rs546849391
Chromosome Location	chr1:247495891-247495892
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	UBTF	chr1:247494404-247496504	K562	blood:	n/a	n/a
2	SIN3A	chr1:247493833-247497073	H1-hESC	embryonic stem cell:	n/a	chr1:247495631-247495642 chr1:247495953-247495964
3	MAX	chr1:247494908-247496081	MCF-7	breast:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
4	TAF1	chr1:247494284-247495892	H1-hESC	embryonic stem cell:	n/a	n/a
5	HEY1	chr1:247494289-247497747	K562	blood:	n/a	chr1:247494564-247494579
6	POLR2A	chr1:247495520-247496079	GM12892	blood:	n/a	n/a
7	MAX	chr1:247494953-247495971	SK-N-SH	brain:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
8	UBTF	chr1:247494251-247496736	K562	blood:	n/a	n/a
9	POLR2A	chr1:247494334-247495960	Hela-S3	cervix:	n/a	n/a
10	HEY1	chr1:247495616-247495945	K562	blood:	n/a	n/a
11	USF1	chr1:247495438-247495902	ECC-1	luminal epithelium:	n/a	chr1:247495605-247495621
12	MAX	chr1:247495061-247495909	HepG2	liver:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247495807-247495816
13	NR2F2	chr1:247495625-247495936	K562	blood:	n/a	n/a
14	ZBTB7A	chr1:247495010-247495966	K562	blood:	n/a	n/a
15	ELF1	chr1:247494100-247496415	GM12878	blood:	n/a	chr1:247495199-247495212 chr1:247494665-247494677 chr1:247496347-247496358
16	ELF1	chr1:247494925-247495994	MCF-7	breast:	n/a	chr1:247495199-247495212
17	CBX3	chr1:247495003-247497040	K562	blood:	n/a	n/a
18	ZBTB7A	chr1:247494951-247496133	ECC-1	luminal epithelium:	n/a	n/a
19	MYBL2	chr1:247495487-247495995	HepG2	liver:	n/a	n/a
20	MAX	chr1:247495435-247496082	MCF-7	breast:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247495807-247495816
21	POLR2A	chr1:247494337-247495995	HCT-116	colon:	n/a	n/a
22	MAX	chr1:247494376-247495977	Hela-S3	cervix:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
23	POLR2A	chr1:247495599-247495954	GM12878	blood:	n/a	n/a
24	WRNIP1	chr1:247495720-247496224	GM12878	blood:	n/a	n/a
25	CHD1	chr1:247495781-247496498	H1-hESC	embryonic stem cell:	n/a	n/a
26	RCOR1	chr1:247495726-247496068	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:247494422-247505513	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr1:247494250-247495914	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr1:247494398-247496436	NB4	blood:	n/a	n/a
30	POLR2A	chr1:247493944-247495972	H1-neurons	neurons:	n/a	n/a
31	MXI1	chr1:247495536-247496047	K562	blood:	n/a	n/a
32	POLR2A	chr1:247494318-247498379	GM12878	blood:	n/a	n/a
33	TAF1	chr1:247495549-247495908	K562	blood:	n/a	n/a
34	MYC	chr1:247494439-247496518	NB4	blood:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
35	POLR2A	chr1:247494315-247496009	K562	blood:	n/a	n/a
36	FOXP2	chr1:247495523-247495894	PFSK-1	brain:	n/a	n/a
37	NR2F2	chr1:247495497-247496837	K562	blood:	n/a	n/a
38	TCF12	chr1:247495088-247496098	A549	lung:	n/a	chr1:247495950-247495960
39	MAX	chr1:247495215-247495918	A549	lung:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247495807-247495816
40	POLR2A	chr1:247495662-247496449	K562	blood:	n/a	n/a
41	POLR2A	chr1:247494312-247496028	GM19099	blood:	n/a	n/a
42	TAF1	chr1:247495612-247495909	GM12878	blood:	n/a	n/a
43	MAX	chr1:247493811-247496029	ECC-1	luminal epithelium:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
44	MYC	chr1:247494363-247496744	MCF10A-Er-Src	breast:	n/a	chr1:247495699-247495708 chr1:247495602-247495612 chr1:247495700-247495710 chr1:247495702-247495709 chr1:247495699-247495714 chr1:247495605-247495615 chr1:247495701-247495710 chr1:247494975-247494985 chr1:247495807-247495816
45	RCOR1	chr1:247494257-247496645	K562	blood:	n/a	n/a
46	ZBTB7A	chr1:247495055-247496151	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr1:247494396-247499332	K562	blood:	n/a	n/a
48	RUNX3	chr1:247495531-247495977	GM12878	blood:	n/a	n/a
49	MTA3	chr1:247495494-247496317	GM12878	blood:	n/a	n/a
50	CEBPB	chr1:247495579-247495920	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:247371506..247373896-chr1:247494793..247496492,2	K562	blood:
2	chr1:247237656..247243483-chr1:247491762..247497969,8	K562	blood:
3	chr1:247371907..247375145-chr1:247492885..247497524,4	MCF-7	breast:
4	chr1:247484098..247486215-chr1:247495440..247497543,2	K562	blood:
5	chr1:247093731..247095297-chr1:247494500..247497465,3	K562	blood:
6	chr1:247371861..247375582-chr1:247493463..247496360,5	MCF-7	breast:
7	chr1:247266988..247268956-chr1:247494459..247496057,2	MCF-7	breast:
8	chr1:247371399..247373319-chr1:247494315..247496686,3	K562	blood:
9	chr1:247495187..247496810-chr1:247522265..247524064,2	K562	blood:
10	chr1:247473800..247482682-chr1:247490121..247498423,19	K562	blood:
11	chr1:247069586..247071786-chr1:247495195..247496702,2	K562	blood:
12	chr1:247495187..247495988-chr9:79008974..79009831,2	HCT-116	colon:
13	chr1:247495232..247496940-chr1:247645349..247647027,2	K562	blood:
14	chr1:247495432..247495974-chr10:77162497..77163288,2	Hela-S3	cervix:
15	chr1:247093791..247096097-chr1:247493835..247497465,5	K562	blood:
16	chr1:247495202..247495979-chr14:105219028..105219965,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NLRP3-1	chr1:247495658-247496689	NONHSAT010773
2	lnc-NLRP3-1	chr1:247495187-247498708	NONHSAT010771

Variant related genes	Relation type
ZNF496	TF binding region
ENSG00000184990	Chromatin interaction
ENSG00000135747	Chromatin interaction
ENSG00000135002	Chromatin interaction
ENSG00000153207	Chromatin interaction
ENSG00000237149	Chromatin interaction
ENSG00000227671	Chromatin interaction
ENSG00000188295	Chromatin interaction
ENSG00000162714	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	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a
5	nsv873439	chr1:247486736-247549220	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
6	esv3437414	chr1:247494354-247496902	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
7	esv1799864	chr1:247494789-247500650	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247493600-247496400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:247493800-247496200	Active TSS	HSMMtube	muscle
3	chr1:247493800-247496400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:247493800-247496600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:247494000-247496000	Active TSS	NHLF	lung
6	chr1:247494000-247496400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr1:247494000-247496400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:247494000-247496400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:247494000-247496400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:247494000-247496400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:247494000-247496400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:247494000-247496600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr1:247494000-247496600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:247494200-247496000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:247494200-247496000	Active TSS	Brain Anterior Caudate	brain
16	chr1:247494200-247496000	Active TSS	Fetal Brain Female	brain
17	chr1:247494200-247496000	Active TSS	Rectal Smooth Muscle	rectum
18	chr1:247494200-247496200	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:247494200-247496200	Active TSS	Aorta	Aorta
20	chr1:247494200-247496200	Active TSS	Brain Cingulate Gyrus	brain
21	chr1:247494200-247496200	Active TSS	Colon Smooth Muscle	Colon
22	chr1:247494200-247496200	Active TSS	A549	lung
23	chr1:247494200-247496200	Active TSS	HSMM	muscle
24	chr1:247494200-247496400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:247494200-247496400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:247494200-247496400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:247494200-247496400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:247494200-247496400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:247494200-247496400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:247494200-247496400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:247494200-247496400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:247494200-247496400	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:247494200-247496400	Active TSS	Fetal Intestine Small	intestine
34	chr1:247494200-247496400	Active TSS	Fetal Kidney	kidney
35	chr1:247494200-247496400	Active TSS	Gastric	stomach
36	chr1:247494200-247496600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:247494200-247496600	Active TSS	Ovary	ovary
38	chr1:247494200-247496800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:247494400-247496000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:247494400-247496000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:247494400-247496000	Active TSS	Left Ventricle	heart
42	chr1:247494400-247496000	Active TSS	Lung	lung
43	chr1:247494400-247496000	Active TSS	Small Intestine	intestine
44	chr1:247494400-247496200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:247494400-247496200	Active TSS	Osteobl	bone
46	chr1:247494400-247496400	Active TSS	Brain Hippocampus Middle	brain
47	chr1:247494400-247496400	Active TSS	Esophagus	oesophagus
48	chr1:247494400-247496400	Active TSS	Right Atrium	heart
49	chr1:247494400-247496400	Active TSS	Right Ventricle	heart
50	chr1:247494400-247496400	Active TSS	Spleen	Spleen

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