Variant report

Variant	rs6433093
Chromosome Location	chr2:169658944-169658945
allele	A/C
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	SP1	chr2:169658728-169659377	A549	lung:	n/a	n/a
2	SMC3	chr2:169658878-169659255	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr2:169658872-169660058	K562	blood:	n/a	n/a
4	MAX	chr2:169658723-169659281	K562	blood:	n/a	n/a
5	NR3C1	chr2:169658858-169659233	A549	lung:	n/a	n/a
6	NR3C1	chr2:169658831-169659251	A549	lung:	n/a	n/a
7	JUND	chr2:169658619-169660226	K562	blood:	n/a	chr2:169659930-169659939 chr2:169660049-169660058 chr2:169660017-169660029
8	ELF1	chr2:169658833-169659219	HepG2	liver:	n/a	chr2:169659067-169659076 chr2:169659066-169659077 chr2:169659066-169659077
9	TEAD4	chr2:169658489-169660182	K562	blood:	n/a	n/a
10	GTF2F1	chr2:169658860-169659314	Hela-S3	cervix:	n/a	n/a
11	NR2F2	chr2:169658480-169659319	K562	blood:	n/a	n/a
12	ZNF143	chr2:169658724-169659342	K562	blood:	n/a	n/a
13	IRF1	chr2:169658826-169660866	K562	blood:	n/a	chr2:169660625-169660639 chr2:169660627-169660638 chr2:169660628-169660642 chr2:169660624-169660638 chr2:169660530-169660542 chr2:169660625-169660638 chr2:169660626-169660640 chr2:169660292-169660299
14	CTCF	chr2:169658820-169659226	K562	blood:	n/a	n/a
15	ZC3H11A	chr2:169658673-169659352	K562	blood:	n/a	n/a
16	STAT5A	chr2:169658757-169659599	K562	blood:	n/a	chr2:169659358-169659372 chr2:169659014-169659021
17	GTF2B	chr2:169658783-169659292	K562	blood:	n/a	n/a
18	UBTF	chr2:169658800-169659314	K562	blood:	n/a	n/a
19	POLR2A	chr2:169658621-169659412	K562	blood:	n/a	n/a
20	HCFC1	chr2:169658788-169659465	K562	blood:	n/a	n/a
21	SP1	chr2:169658712-169659327	A549	lung:	n/a	n/a
22	FOXA2	chr2:169658725-169659266	A549	lung:	n/a	n/a
23	TBL1XR1	chr2:169658734-169660303	K562	blood:	n/a	n/a
24	ATF1	chr2:169658557-169660150	K562	blood:	n/a	n/a
25	CHD2	chr2:169658912-169659276	Hela-S3	cervix:	n/a	n/a
26	ZMIZ1	chr2:169658719-169659397	K562	blood:	n/a	n/a
27	NR3C1	chr2:169658759-169659291	A549	lung:	n/a	n/a
28	ELK4	chr2:169658831-169659192	Hela-S3	cervix:	n/a	n/a
29	ELF1	chr2:169658797-169659381	MCF-7	breast:	n/a	chr2:169659067-169659076 chr2:169659066-169659077 chr2:169659066-169659077
30	CREB1	chr2:169658819-169659217	A549	lung:	n/a	n/a
31	BHLHE40	chr2:169658791-169659439	K562	blood:	n/a	n/a
32	STAT3	chr2:169658907-169659243	Hela-S3	cervix:	n/a	chr2:169659014-169659021
33	ELF1	chr2:169658718-169659406	HCT-116	colon:	n/a	chr2:169659067-169659076 chr2:169659066-169659077 chr2:169659066-169659077
34	ELF1	chr2:169658814-169659292	A549	lung:	n/a	chr2:169659067-169659076 chr2:169659066-169659077 chr2:169659066-169659077
35	TBL1XR1	chr2:169658811-169659536	K562	blood:	n/a	n/a
36	POLR2A	chr2:169658783-169659324	K562	blood:	n/a	n/a
37	CUX1	chr2:169658815-169660249	K562	blood:	n/a	n/a
38	CEBPB	chr2:169658807-169659342	A549	lung:	n/a	n/a
39	REST	chr2:169658794-169659431	K562	blood:	n/a	n/a
40	GABPA	chr2:169658786-169659318	A549	lung:	n/a	n/a
41	CEBPB	chr2:169658927-169659482	K562	blood:	n/a	n/a
42	ELF1	chr2:169658725-169659402	MCF-7	breast:	n/a	chr2:169659067-169659076 chr2:169659066-169659077 chr2:169659066-169659077
43	RCOR1	chr2:169658656-169660156	K562	blood:	n/a	n/a
44	CBX3	chr2:169658410-169660111	K562	blood:	n/a	n/a
45	TEAD4	chr2:169658737-169660249	K562	blood:	n/a	n/a
46	MAX	chr2:169658854-169659261	K562	blood:	n/a	n/a
47	ELF1	chr2:169658765-169659308	A549	lung:	n/a	chr2:169659067-169659076 chr2:169659066-169659077 chr2:169659066-169659077
48	REST	chr2:169658911-169659187	K562	blood:	n/a	n/a
49	MAZ	chr2:169658615-169660110	K562	blood:	n/a	n/a
50	EP300	chr2:169658934-169659268	SK-N-SH_RA	brain:	n/a	chr2:169659015-169659024 chr2:169659069-169659076

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169640528..169642089-chr2:169658914..169661880,2	K562	blood:

Variant related genes	Relation type
NOSTRIN	TF binding region
ENSG00000227617	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17265731	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17265949	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2010230	1.00[ASN][1000 genomes]
rs2433679	0.89[ASN][1000 genomes]
rs2461362	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs2461390	0.89[ASN][1000 genomes]
rs3843328	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs482435	0.92[CEU][hapmap];0.83[GIH][hapmap];0.84[MEX][hapmap];0.84[EUR][1000 genomes]
rs494120	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs498488	0.89[ASN][1000 genomes]
rs511013	1.00[CHB][hapmap]
rs543262	1.00[CEU][hapmap];0.96[GIH][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.92[EUR][1000 genomes]
rs550081	0.87[EUR][1000 genomes]
rs551037	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6716139	0.84[EUR][1000 genomes]
rs829955	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs829960	0.89[ASN][1000 genomes]
rs830024	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs830025	0.89[ASN][1000 genomes]
rs830026	0.89[ASN][1000 genomes]
rs9287903	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915920	chr2:168851960-169696591	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169652000-169659000	Weak transcription	Fetal Kidney	kidney
2	chr2:169653000-169659000	Weak transcription	Right Ventricle	heart
3	chr2:169653000-169659200	Enhancers	Fetal Intestine Small	intestine
4	chr2:169656000-169666800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:169656200-169659000	Weak transcription	Spleen	Spleen
6	chr2:169656600-169659000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:169656600-169659400	Weak transcription	Gastric	stomach
8	chr2:169657800-169659200	Enhancers	Fetal Intestine Large	intestine
9	chr2:169658000-169659000	Enhancers	Colonic Mucosa	Colon
10	chr2:169658200-169659000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:169658200-169659000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:169658200-169659200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:169658200-169659200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:169658200-169659200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:169658200-169659200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:169658200-169659200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:169658200-169659200	Enhancers	Fetal Heart	heart
18	chr2:169658200-169659400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:169658200-169659800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:169658400-169659000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:169658400-169659000	Enhancers	Fetal Stomach	stomach
22	chr2:169658400-169659200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:169658400-169659400	Enhancers	Placenta	Placenta
24	chr2:169658400-169659800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:169658400-169659800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:169658400-169659800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr2:169658400-169660000	Enhancers	HepG2	liver
28	chr2:169658400-169660400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:169658600-169659000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr2:169658600-169659200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:169658600-169659200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:169658600-169659600	Enhancers	HUVEC	blood vessel
33	chr2:169658600-169659800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:169658600-169659800	Flanking Active TSS	K562	blood
35	chr2:169658600-169660000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:169658600-169660000	Flanking Active TSS	A549	lung
37	chr2:169658600-169660200	Active TSS	Rectal Smooth Muscle	rectum
38	chr2:169658600-169662200	Active TSS	Right Atrium	heart
39	chr2:169658800-169659000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:169658800-169659000	Enhancers	Fetal Lung	lung
41	chr2:169658800-169659000	Enhancers	Left Ventricle	heart
42	chr2:169658800-169659000	Flanking Active TSS	Lung	lung
43	chr2:169658800-169659000	Flanking Active TSS	Hela-S3	cervix
44	chr2:169658800-169659000	Enhancers	Osteobl	bone
45	chr2:169658800-169659200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:169658800-169659200	Enhancers	Liver	Liver
47	chr2:169658800-169659200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr2:169658800-169659200	Enhancers	Fetal Muscle Leg	muscle
49	chr2:169658800-169659200	Enhancers	Ovary	ovary
50	chr2:169658800-169659200	Flanking Active TSS	Pancreas	Pancrea

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