Variant report

Variant	rs184402904
Chromosome Location	chr1:226374945-226374946
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:98)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:98 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:226373906-226374950	GM18951	blood:	n/a	n/a
2	POLR2A	chr1:226374160-226374977	HepG2	liver:	n/a	n/a
3	TCF12	chr1:226373791-226375055	A549	lung:	n/a	n/a
4	POLR2A	chr1:226374219-226375019	U87	brain:	n/a	n/a
5	REST	chr1:226373693-226375096	H1-neurons	neurons:	n/a	chr1:226374665-226374685
6	ZMIZ1	chr1:226373910-226375153	K562	blood:	n/a	n/a
7	HCFC1	chr1:226373027-226375082	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr1:226373733-226374945	GM12878	blood:	n/a	chr1:226374424-226374437
9	EP300	chr1:226374836-226374987	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:226373876-226374960	GM19099	blood:	n/a	n/a
11	MAZ	chr1:226373365-226375027	IMR90	lung:	n/a	chr1:226374543-226374552
12	POLR2A	chr1:226374201-226375048	PFSK-1	brain:	n/a	n/a
13	ZBTB7A	chr1:226374248-226374996	ECC-1	luminal epithelium:	n/a	chr1:226374556-226374567
14	POLR2A	chr1:226374074-226374983	GM12891	blood:	n/a	n/a
15	POLR2A	chr1:226373987-226374957	Hela-S3	cervix:	n/a	n/a
16	CREB1	chr1:226373899-226375090	HepG2	liver:	n/a	n/a
17	JUND	chr1:226374043-226375150	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr1:226374106-226374962	NB4	blood:	n/a	chr1:226374543-226374552
19	POLR2A	chr1:226374148-226374962	K562	blood:	n/a	n/a
20	POLR2A	chr1:226373890-226374986	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr1:226373807-226375000	GM19193	blood:	n/a	n/a
22	POLR2A	chr1:226374155-226375074	SK-N-SH	brain:	n/a	n/a
23	GTF2F1	chr1:226374816-226374985	Hela-S3	cervix:	n/a	n/a
24	GABPA	chr1:226374070-226374956	MCF-7	breast:	n/a	n/a
25	PBX3	chr1:226374162-226374974	SK-N-SH	brain:	n/a	chr1:226374674-226374694
26	POLR2A	chr1:226374147-226374962	K562	blood:	n/a	n/a
27	POLR2A	chr1:226373665-226375031	K562	blood:	n/a	n/a
28	GABPA	chr1:226373647-226374968	K562	blood:	n/a	n/a
29	RUNX3	chr1:226373687-226375033	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:226374126-226374974	NB4	blood:	n/a	n/a
31	POLR2A	chr1:226373985-226375006	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr1:226373447-226375324	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr1:226373773-226374984	K562	blood:	n/a	n/a
34	POLR2A	chr1:226373921-226374987	Raji	blood:	n/a	n/a
35	HEY1	chr1:226374075-226375012	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:226374121-226374971	HEK293	kidney:	n/a	n/a
37	POLR2A	chr1:226373853-226375045	GM18505	blood:	n/a	n/a
38	POLR2A	chr1:226373663-226375097	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:226374008-226375106	SK-N-MC	brain:	n/a	n/a
40	POLR2A	chr1:226373883-226374991	HepG2	liver:	n/a	n/a
41	ZC3H11A	chr1:226374277-226375002	K562	blood:	n/a	n/a
42	MXI1	chr1:226373933-226374971	HepG2	liver:	n/a	n/a
43	POLR2A	chr1:226374171-226374946	HepG2	liver:	n/a	n/a
44	GTF2F1	chr1:226374799-226374994	H1-hESC	embryonic stem cell:	n/a	n/a
45	MXI1	chr1:226373832-226374955	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:226373740-226374975	K562	blood:	n/a	n/a
47	HCFC1	chr1:226373871-226375057	K562	blood:	n/a	n/a
48	MTA3	chr1:226373688-226375192	GM12878	blood:	n/a	n/a
49	RELA	chr1:226374235-226374991	GM15510	blood:	n/a	n/a
50	ZBTB7A	chr1:226374258-226375071	ECC-1	luminal epithelium:	n/a	chr1:226374556-226374567

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226372831..226375478-chr1:226375885..226377759,2	MCF-7	breast:
2	chr1:226374025..226374961-chr10:103124126..103125126,2	Hela-S3	cervix:
3	chr1:226374065..226375016-chr5:130506120..130506933,2	NB4	blood:
4	chr1:226186326..226187179-chr1:226374081..226375039,2	K562	blood:
5	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
6	chr1:226251379..226253297-chr1:226374542..226377353,2	K562	blood:
7	chr1:226374796..226376428-chr1:226594450..226597292,2	K562	blood:
8	chr1:226374445..226376011-chr1:226411656..226414406,2	K562	blood:
9	chr1:226270770..226272699-chr1:226374583..226377096,2	MCF-7	breast:
10	chr1:226313633..226315169-chr1:226374399..226376035,2	MCF-7	breast:

No data

Variant related genes	Relation type
ACBD3	TF binding region
ENSG00000163041	Chromatin interaction
ENSG00000143799	Chromatin interaction
ENSG00000223570	Chromatin interaction
ENSG00000222414	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000186687	Chromatin interaction
ENSG00000270598	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000185155	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv945331	chr1:226374378-226377514	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr1:226372000-226375200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:226372200-226375200	Active TSS	NHDF-Ad	bronchial
3	chr1:226372400-226375000	Active TSS	NHLF	lung
4	chr1:226372600-226375000	Active TSS	HSMM	muscle
5	chr1:226372600-226375200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr1:226372600-226375400	Active TSS	GM12878-XiMat	blood
7	chr1:226372800-226375000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:226372800-226375000	Active TSS	Left Ventricle	heart
9	chr1:226372800-226375200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:226372800-226375200	Active TSS	Psoas Muscle	Psoas
11	chr1:226372800-226375400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:226373000-226375000	Active TSS	Aorta	Aorta
13	chr1:226373000-226375000	Active TSS	Colonic Mucosa	Colon
14	chr1:226373000-226375000	Active TSS	Fetal Stomach	stomach
15	chr1:226373000-226375000	Active TSS	Ovary	ovary
16	chr1:226373000-226375000	Active TSS	Right Ventricle	heart
17	chr1:226373000-226375000	Bivalent/Poised TSS	HepG2	liver
18	chr1:226373000-226375200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:226373000-226375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:226373000-226375200	Active TSS	Fetal Intestine Small	intestine
21	chr1:226373000-226375200	Active TSS	Fetal Muscle Leg	muscle
22	chr1:226373200-226375000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:226373200-226375200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr1:226373200-226375200	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr1:226373200-226375200	Active TSS	K562	blood
26	chr1:226373400-226375000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:226373400-226375000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:226373400-226375000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:226373400-226375000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:226373400-226375000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:226373400-226375000	Active TSS	Esophagus	oesophagus
32	chr1:226373400-226375000	Active TSS	Gastric	stomach
33	chr1:226373400-226375000	Active TSS	A549	lung
34	chr1:226373400-226375400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:226373400-226375400	Active TSS	Hela-S3	cervix
36	chr1:226373600-226375000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:226373600-226375000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr1:226373600-226375000	Active TSS	Duodenum Mucosa	Duodenum
39	chr1:226373600-226375000	Active TSS	Rectal Smooth Muscle	rectum
40	chr1:226373600-226375200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:226373600-226375200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:226373600-226375200	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:226373600-226375200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:226373600-226375200	Active TSS	Brain Anterior Caudate	brain
45	chr1:226373600-226375200	Active TSS	Brain Hippocampus Middle	brain
46	chr1:226373600-226375200	Active TSS	Brain Substantia Nigra	brain
47	chr1:226373600-226375400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:226373600-226375400	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr1:226373800-226375000	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:226373800-226375000	Active TSS	Brain Angular Gyrus	brain

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