Variant report

Variant	rs6702795
Chromosome Location	chr1:226252854-226252855
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	CTCF	chr1:226251857-226252953	K562	blood:	n/a	chr1:226252680-226252698 chr1:226252682-226252703
2	CTCF	chr1:226251984-226252895	GM12878	blood:	n/a	chr1:226252680-226252698 chr1:226252682-226252703
3	POLR2A	chr1:226252492-226253120	GM12878	blood:	n/a	n/a
4	RAD21	chr1:226252354-226252994	A549	lung:	n/a	chr1:226252681-226252700
5	CTCF	chr1:226252460-226252917	MCF-7	breast:	n/a	chr1:226252680-226252698 chr1:226252682-226252703
6	SMC3	chr1:226252510-226252856	Hela-S3	cervix:	n/a	chr1:226252682-226252696
7	CTCF	chr1:226252421-226252917	A549	lung:	n/a	chr1:226252680-226252698 chr1:226252682-226252703
8	RAD21	chr1:226251888-226253082	HCT-116	colon:	n/a	chr1:226252681-226252700
9	RAD21	chr1:226252510-226252917	H1-hESC	embryonic stem cell:	n/a	chr1:226252681-226252700
10	POLR2A	chr1:226248810-226256763	K562	blood:	n/a	n/a
11	EP300	chr1:226251835-226252878	GM12878	blood:	n/a	n/a
12	RAD21	chr1:226252481-226252914	MCF-7	breast:	n/a	chr1:226252681-226252700
13	POLR2A	chr1:226250302-226252891	PBDE	blood:	n/a	n/a
14	CTCF	chr1:226252472-226252917	T-47D	breast:	n/a	chr1:226252680-226252698 chr1:226252682-226252703
15	MXI1	chr1:226252485-226253152	GM12878	blood:	n/a	n/a
16	ATF2	chr1:226252454-226252927	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZNF143	chr1:226252516-226252898	GM12878	blood:	n/a	chr1:226252883-226252892
18	TBL1XR1	chr1:226250919-226252972	K562	blood:	n/a	n/a
19	RAD21	chr1:226251846-226253033	HCT-116	colon:	n/a	chr1:226252681-226252700
20	CTCF	chr1:226249723-226253106	SK-N-SH	brain:	n/a	chr1:226252680-226252698 chr1:226250667-226250685 chr1:226252682-226252703
21	ZNF143	chr1:226251931-226253076	K562	blood:	n/a	chr1:226252883-226252892 chr1:226252899-226252914
22	POLR2A	chr1:226252514-226253151	SK-N-MC	brain:	n/a	n/a
23	TBP	chr1:226251999-226253014	GM12878	blood:	n/a	n/a
24	SMC3	chr1:226252515-226252859	HepG2	liver:	n/a	chr1:226252682-226252696
25	CTCF	chr1:226252400-226252938	MCF-7	breast:	n/a	chr1:226252680-226252698 chr1:226252682-226252703
26	CTCF	chr1:226252502-226252866	A549	lung:	n/a	chr1:226252680-226252698 chr1:226252682-226252703
27	SIN3A	chr1:226249154-226252868	H1-hESC	embryonic stem cell:	n/a	chr1:226250460-226250473 chr1:226249897-226249908
28	MXI1	chr1:226248469-226253081	SK-N-SH	brain:	n/a	n/a
29	RAD21	chr1:226252483-226252855	GM12878	blood:	n/a	chr1:226252681-226252700
30	RAD21	chr1:226252524-226252931	ECC-1	luminal epithelium:	n/a	chr1:226252681-226252700
31	POLR2A	chr1:226252523-226253028	PANC-1	pancreas:	n/a	n/a
32	RAD21	chr1:226252433-226252927	HepG2	liver:	n/a	chr1:226252681-226252700
33	CTCF	chr1:226251888-226252979	HCT-116	colon:	n/a	chr1:226252680-226252698 chr1:226252682-226252703
34	CTCF	chr1:226252495-226252875	H1-hESC	embryonic stem cell:	n/a	chr1:226252680-226252698 chr1:226252682-226252703
35	RAD21	chr1:226252497-226252914	ECC-1	luminal epithelium:	n/a	chr1:226252681-226252700
36	RAD21	chr1:226252511-226252863	H1-hESC	embryonic stem cell:	n/a	chr1:226252681-226252700
37	RAD21	chr1:226252476-226252995	IMR90	lung:	n/a	chr1:226252681-226252700
38	STAT3	chr1:226252520-226252932	MCF10A-Er-Src	breast:	n/a	chr1:226252891-226252914 chr1:226252906-226252914 chr1:226252903-226252917
39	RAD21	chr1:226252531-226252868	HepG2	liver:	n/a	chr1:226252681-226252700
40	RAD21	chr1:226252503-226252914	SK-N-SH_RA	brain:	n/a	chr1:226252681-226252700
41	PML	chr1:226251195-226252920	K562	blood:	n/a	n/a
42	TEAD4	chr1:226251781-226253162	K562	blood:	n/a	n/a
43	CTCF	chr1:226250295-226253293	A549	lung:	n/a	chr1:226252680-226252698 chr1:226250667-226250685 chr1:226252682-226252703
44	ARID3A	chr1:226251344-226252882	HepG2	liver:	n/a	chr1:226251729-226251745
45	POLR2A	chr1:226252358-226255036	GM12878	blood:	n/a	n/a
46	RAD21	chr1:226252406-226253019	MCF-7	breast:	n/a	chr1:226252681-226252700
47	ZNF384	chr1:226252001-226252860	K562	blood:	n/a	n/a
48	RAD21	chr1:226252076-226252863	HepG2	liver:	n/a	chr1:226252681-226252700
49	CHD1	chr1:226250340-226253168	H1-hESC	embryonic stem cell:	n/a	chr1:226250686-226250696 chr1:226250759-226250769
50	JUN	chr1:226251613-226252894	K562	blood:	n/a	chr1:226252598-226252607 chr1:226252769-226252781 chr1:226252615-226252624

No.	Distal block	Cell Line	Cell type
1	chr1:226183087..226192322-chr1:226243551..226254243,95	K562	blood:
2	chr1:226247680..226258196-chr1:226306136..226315725,36	MCF-7	breast:
3	chr1:226251745..226253327-chr1:226308554..226309876,11	MCF-7	breast:
4	chr1:226183029..226192481-chr1:226247725..226253108,31	MCF-7	breast:
5	chr1:226252549..226256033-chr1:226258651..226261482,3	MCF-7	breast:
6	chr1:226252321..226254478-chr1:226297571..226300117,4	MCF-7	breast:
7	chr1:226184876..226191468-chr1:226247585..226254254,12	MCF-7	breast:
8	chr1:226252587..226254358-chr1:226261126..226263973,2	MCF-7	breast:
9	chr1:226251379..226253297-chr1:226374542..226377353,2	K562	blood:
10	chr1:226252003..226254047-chr1:226372639..226375517,2	MCF-7	breast:
11	chr1:226251889..226252914-chr1:226308820..226310149,9	K562	blood:
12	chr1:226248537..226252087-chr1:226252328..226257854,13	MCF-7	breast:
13	chr1:226252767..226255693-chr1:226262385..226264510,2	MCF-7	breast:
14	chr1:226248851..226254336-chr1:226269112..226274282,12	MCF-7	breast:
15	chr1:226248789..226253333-chr1:226269675..226273948,8	MCF-7	breast:
16	chr1:226247784..226253760-chr1:226305545..226317702,29	MCF-7	breast:
17	chr1:226178791..226193771-chr1:226246813..226256535,111	K562	blood:

Variant related genes	Relation type
ENSG00000272562	TF binding region
ENSG00000163041	Chromatin interaction
ENSG00000223570	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000182827	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000270598	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17515010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72757029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72757063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

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	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription 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	65 gene(s)	inside rSNPs	diseases
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226248200-226253400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:226248800-226253000	Active TSS	NHLF	lung
3	chr1:226248800-226253200	Active TSS	Colonic Mucosa	Colon
4	chr1:226248800-226253400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr1:226248800-226253400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:226249000-226253000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:226249000-226253000	Active TSS	Psoas Muscle	Psoas
8	chr1:226249000-226253200	Active TSS	Fetal Muscle Trunk	muscle
9	chr1:226249000-226253200	Active TSS	Ovary	ovary
10	chr1:226249000-226253400	Active TSS	Fetal Intestine Large	intestine
11	chr1:226249000-226253400	Active TSS	Right Ventricle	heart
12	chr1:226249200-226253000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:226249200-226253000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr1:226249200-226253000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:226249200-226253000	Active TSS	Aorta	Aorta
16	chr1:226249200-226253400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:226249200-226253400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:226249200-226253400	Active TSS	Fetal Intestine Small	intestine
19	chr1:226249400-226253000	Active TSS	Fetal Muscle Leg	muscle
20	chr1:226249400-226253200	Active TSS	Thymus	Thymus
21	chr1:226249400-226253200	Active TSS	HSMMtube	muscle
22	chr1:226249600-226253000	Active TSS	Primary T cells fromperipheralblood	blood
23	chr1:226249600-226253200	Active TSS	GM12878-XiMat	blood
24	chr1:226250200-226253200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:226251400-226253200	Active TSS	Right Atrium	heart
26	chr1:226251600-226254000	Weak transcription	Spleen	Spleen
27	chr1:226251800-226254400	Weak transcription	Gastric	stomach
28	chr1:226252000-226253000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:226252200-226253000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:226252200-226253200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:226252200-226253200	Flanking Active TSS	Liver	Liver
32	chr1:226252200-226253400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:226252200-226253400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:226252200-226253400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:226252200-226253400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:226252200-226253400	Flanking Active TSS	HUVEC	blood vessel
37	chr1:226252200-226254000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:226252200-226254000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr1:226252200-226254000	Weak transcription	Pancreas	Pancrea
40	chr1:226252200-226254000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:226252200-226254200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
42	chr1:226252200-226255200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
43	chr1:226252200-226256000	Weak transcription	Lung	lung
44	chr1:226252200-226256400	Weak transcription	Esophagus	oesophagus
45	chr1:226252200-226257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr1:226252400-226253000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr1:226252400-226253000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:226252400-226253000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr1:226252400-226253000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr1:226252400-226253000	Flanking Active TSS	Adipose Nuclei	Adipose

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