Variant report

Variant	rs370671054
Chromosome Location	chr1:95392296-95392297
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	RAD21	chr1:95391741-95392310	H1-hESC	embryonic stem cell:	n/a	chr1:95391964-95391976
2	POLR2A	chr1:95391041-95393236	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr1:95392241-95393181	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr1:95391042-95393592	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr1:95392199-95392984	A549	lung:	n/a	chr1:95392702-95392712 chr1:95392707-95392716 chr1:95392211-95392221 chr1:95392460-95392472
6	POLR2A	chr1:95391955-95393155	HEK293	kidney:	n/a	n/a
7	CTCF	chr1:95392200-95392350	NHDF-neo	bronchial:	n/a	n/a
8	RAD21	chr1:95391089-95392829	H1-hESC	embryonic stem cell:	n/a	chr1:95391964-95391976
9	SIN3A	chr1:95390628-95393664	H1-hESC	embryonic stem cell:	n/a	chr1:95391947-95391956 chr1:95392333-95392342
10	MAZ	chr1:95391822-95393214	HepG2	liver:	n/a	chr1:95392705-95392715 chr1:95392831-95392841 chr1:95392768-95392778 chr1:95393042-95393052
11	TCF7L2	chr1:95391739-95393148	HCT-116	colon:	n/a	n/a
12	TAF1	chr1:95391687-95393004	H1-neurons	neurons:	n/a	n/a
13	CTCF	chr1:95392160-95392310	GM12870	blood:	n/a	n/a
14	CTCF	chr1:95391005-95392890	A549	lung:	n/a	chr1:95392709-95392722 chr1:95392762-95392775 chr1:95391265-95391274
15	POLR2A	chr1:95390976-95393237	HUVEC	blood vessel:	n/a	n/a
16	FOS	chr1:95391022-95392444	HUVEC	blood vessel:	n/a	n/a
17	SIN3AK20	chr1:95391017-95393248	SK-N-SH	brain:	n/a	n/a
18	E2F6	chr1:95392120-95393416	H1-hESC	embryonic stem cell:	n/a	chr1:95392702-95392712 chr1:95392707-95392716 chr1:95392211-95392221 chr1:95392134-95392144 chr1:95392177-95392189 chr1:95392460-95392472
19	TAF7	chr1:95390989-95393385	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr1:95390984-95393638	H1-hESC	embryonic stem cell:	n/a	n/a
21	TAF1	chr1:95390988-95392913	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr1:95391792-95393011	A549	lung:	n/a	chr1:95392705-95392715 chr1:95392831-95392841 chr1:95392768-95392778
23	CHD1	chr1:95390400-95392702	H1-hESC	embryonic stem cell:	n/a	n/a
24	MXI1	chr1:95390217-95393728	IMR90	lung:	n/a	chr1:95393426-95393435 chr1:95393424-95393433
25	TAF1	chr1:95391131-95393049	SK-N-SH	brain:	n/a	n/a
26	JUND	chr1:95391034-95393670	H1-hESC	embryonic stem cell:	n/a	n/a
27	PML	chr1:95392289-95393252	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:95391093-95393265	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr1:95392288-95393640	SK-N-SH	brain:	n/a	chr1:95392705-95392715 chr1:95393421-95393436 chr1:95392831-95392841 chr1:95392768-95392778 chr1:95393424-95393434 chr1:95393042-95393052 chr1:95393425-95393434 chr1:95393423-95393438
30	EGR1	chr1:95391130-95393451	HCT-116	colon:	n/a	chr1:95392702-95392715 chr1:95393043-95393053 chr1:95392703-95392714 chr1:95392702-95392712 chr1:95392702-95392715 chr1:95392702-95392715 chr1:95392758-95392772 chr1:95392703-95392712 chr1:95392709-95392720 chr1:95392705-95392719 chr1:95392708-95392721 chr1:95392697-95392719 chr1:95392706-95392716 chr1:95392702-95392715
31	CTCF	chr1:95391651-95392774	IMR90	lung:	n/a	chr1:95392709-95392722
32	POLR2A	chr1:95390771-95393144	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr1:95390227-95394539	HepG2	liver:	n/a	n/a
34	MXI1	chr1:95390079-95394077	SK-N-SH	brain:	n/a	chr1:95393426-95393435 chr1:95393424-95393433
35	MAX	chr1:95391053-95393624	HepG2	liver:	n/a	chr1:95392705-95392715 chr1:95393421-95393436 chr1:95392831-95392841 chr1:95392768-95392778 chr1:95393424-95393434 chr1:95393042-95393052 chr1:95393425-95393434 chr1:95393423-95393438
36	CTCF	chr1:95392200-95392350	NHLF	lung:	n/a	n/a
37	ZBTB7A	chr1:95391166-95393289	ECC-1	luminal epithelium:	n/a	chr1:95392048-95392057
38	MAX	chr1:95391057-95393432	HCT-116	colon:	n/a	chr1:95392705-95392715 chr1:95392831-95392841 chr1:95392768-95392778 chr1:95393042-95393052
39	POLR2A	chr1:95390628-95393264	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr1:95392169-95394276	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:95392265-95392778	U87	brain:	n/a	n/a
42	E2F6	chr1:95391826-95393661	H1-hESC	embryonic stem cell:	n/a	chr1:95392702-95392712 chr1:95392707-95392716 chr1:95392211-95392221 chr1:95392134-95392144 chr1:95392177-95392189 chr1:95391971-95391981 chr1:95391930-95391939 chr1:95392117-95392127 chr1:95392460-95392472
43	SIN3AK20	chr1:95391843-95393163	PANC-1	pancreas:	n/a	n/a
44	POLR2A	chr1:95392076-95393125	ProgFib	skin:	n/a	n/a
45	MAX	chr1:95391798-95393337	ECC-1	luminal epithelium:	n/a	chr1:95392705-95392715 chr1:95392831-95392841 chr1:95392768-95392778 chr1:95393042-95393052
46	REST	chr1:95391153-95392880	H1-neurons	neurons:	n/a	chr1:95391947-95391957 chr1:95392474-95392481 chr1:95391793-95391811 chr1:95391945-95391959
47	RAD21	chr1:95392209-95393428	SK-N-SH_RA	brain:	n/a	chr1:95393000-95393012
48	POLR2A	chr1:95389178-95394521	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr1:95390981-95393532	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr1:95392249-95393329	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:95392058..95392560-chr2:71558411..71559066,3	K562	blood:
2	chr1:95392083..95393064-chr1:155293720..155294600,2	HCT-116	colon:
3	chr1:95392060..95392560-chr2:71558831..71559409,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000235501	TF binding region
CNN3	TF binding region
ENSG00000160753	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000075292	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	nsv947291	chr1:95382933-95393244	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3389010	chr1:95390889-95394337	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95387000-95395400	Active TSS	Aorta	Aorta
2	chr1:95388400-95393600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:95389600-95393400	Active TSS	Brain Anterior Caudate	brain
4	chr1:95389600-95393600	Active TSS	Brain Substantia Nigra	brain
5	chr1:95389600-95393600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:95389600-95395000	Active TSS	Ovary	ovary
7	chr1:95389600-95395000	Active TSS	Right Atrium	heart
8	chr1:95389800-95393000	Active TSS	NH-A	brain
9	chr1:95389800-95393600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr1:95389800-95393600	Active TSS	NHLF	lung
11	chr1:95389800-95395200	Active TSS	HSMMtube	muscle
12	chr1:95390000-95393200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:95390000-95393200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:95390000-95393200	Active TSS	Muscle Satellite Cultured Cells	--
15	chr1:95390000-95393200	Active TSS	NHDF-Ad	bronchial
16	chr1:95390000-95393400	Active TSS	HMEC	breast
17	chr1:95390000-95393600	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:95390000-95393600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:95390000-95393600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:95390000-95393800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr1:95390000-95393800	Active TSS	Right Ventricle	heart
22	chr1:95390000-95394000	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr1:95390000-95394200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:95390000-95394200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:95390000-95394600	Active TSS	Lung	lung
26	chr1:95390200-95393000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:95390200-95393600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:95390200-95393600	Active TSS	Esophagus	oesophagus
29	chr1:95390200-95393600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr1:95390200-95393600	Active TSS	Left Ventricle	heart
31	chr1:95390200-95395400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:95390400-95393200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr1:95390400-95393200	Active TSS	Fetal Muscle Leg	muscle
34	chr1:95390400-95393200	Active TSS	Fetal Stomach	stomach
35	chr1:95390400-95393200	Active TSS	Placenta Amnion	Placenta Amnion
36	chr1:95390400-95393600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:95390400-95393600	Active TSS	Fetal Muscle Trunk	muscle
38	chr1:95390400-95393800	Active TSS	Duodenum Mucosa	Duodenum
39	chr1:95390400-95394400	Active TSS	H1 Cell Line	embryonic stem cell
40	chr1:95390400-95394400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:95390600-95393000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr1:95390600-95393000	Bivalent/Poised TSS	Thymus	Thymus
43	chr1:95390600-95393200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr1:95390600-95393200	Active TSS	Pancreas	Pancrea
45	chr1:95390600-95393600	Active TSS	H9 Cell Line	embryonic stem cell
46	chr1:95390600-95393600	Active TSS	Small Intestine	intestine
47	chr1:95390600-95393800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:95390600-95393800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:95390600-95393800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:95390800-95393000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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