Variant report

Variant	rs6426505
Chromosome Location	chr1:228701102-228701103
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:100)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:100 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:228700956-228701699	K562	blood:	n/a	n/a
2	HMGN3	chr1:228700968-228701470	K562	blood:	n/a	n/a
3	CBX3	chr1:228700848-228701519	K562	blood:	n/a	n/a
4	CEBPB	chr1:228700631-228701705	K562	blood:	n/a	chr1:228701235-228701248
5	RCOR1	chr1:228700684-228701417	K562	blood:	n/a	n/a
6	SMC3	chr1:228700746-228701447	K562	blood:	n/a	n/a
7	CEBPD	chr1:228700831-228701506	K562	blood:	n/a	n/a
8	GATA2	chr1:228700914-228701415	K562	blood:	n/a	chr1:228701158-228701168
9	IRF1	chr1:228700887-228701570	K562	blood:	n/a	n/a
10	CHD2	chr1:228700785-228701637	K562	blood:	n/a	n/a
11	CEBPB	chr1:228701066-228701387	HepG2	liver:	n/a	chr1:228701235-228701248
12	TEAD4	chr1:228700556-228701883	K562	blood:	n/a	n/a
13	CTCF	chr1:228700929-228701330	K562	blood:	n/a	n/a
14	GATA1	chr1:228700503-228703206	PBDE	blood:	n/a	chr1:228701158-228701168
15	MYC	chr1:228700758-228701590	K562	blood:	n/a	n/a
16	MXI1	chr1:228700945-228701340	K562	blood:	n/a	n/a
17	POLR2A	chr1:228700928-228701326	K562	blood:	n/a	n/a
18	TAF1	chr1:228700963-228701290	K562	blood:	n/a	n/a
19	MAZ	chr1:228700892-228701595	K562	blood:	n/a	n/a
20	YY1	chr1:228701015-228701368	K562	blood:	n/a	n/a
21	MAX	chr1:228700863-228701479	K562	blood:	n/a	n/a
22	NR2F2	chr1:228700643-228702024	K562	blood:	n/a	n/a
23	GATA1	chr1:228700907-228701419	PBDEFetal	blood:	n/a	chr1:228701158-228701168
24	GATA2	chr1:228700800-228701511	K562	blood:	n/a	chr1:228701158-228701168
25	UBTF	chr1:228700886-228701553	K562	blood:	n/a	n/a
26	ZNF384	chr1:228700636-228701368	K562	blood:	n/a	n/a
27	POLR2A	chr1:228700987-228701401	K562	blood:	n/a	n/a
28	UBTF	chr1:228700912-228701416	K562	blood:	n/a	n/a
29	RCOR1	chr1:228700703-228701696	K562	blood:	n/a	n/a
30	MYC	chr1:228701027-228701329	K562	blood:	n/a	n/a
31	ZMIZ1	chr1:228700751-228701722	K562	blood:	n/a	n/a
32	MAX	chr1:228700962-228701463	K562	blood:	n/a	n/a
33	ZNF143	chr1:228700959-228701645	K562	blood:	n/a	chr1:228701096-228701114
34	STAT5A	chr1:228700805-228701431	K562	blood:	n/a	n/a
35	CREB1	chr1:228700582-228701779	K562	blood:	n/a	chr1:228701691-228701704
36	GATA1	chr1:228700929-228701382	K562	blood:	n/a	chr1:228701158-228701168
37	MAFK	chr1:228700733-228701673	K562	blood:	n/a	chr1:228701433-228701442
38	TBL1XR1	chr1:228700645-228701657	K562	blood:	n/a	n/a
39	ELK1	chr1:228700893-228701433	K562	blood:	n/a	n/a
40	MYC	chr1:228700868-228701650	K562	blood:	n/a	n/a
41	POLR2A	chr1:228700875-228701491	K562	blood:	n/a	n/a
42	HCFC1	chr1:228700925-228701356	K562	blood:	n/a	n/a
43	ETS1	chr1:228700918-228701376	K562	blood:	n/a	chr1:228701282-228701295
44	GABPA	chr1:228700844-228701412	K562	blood:	n/a	n/a
45	TAF1	chr1:228700971-228701254	K562	blood:	n/a	n/a
46	ETS1	chr1:228700955-228701317	K562	blood:	n/a	chr1:228701282-228701295
47	TBP	chr1:228700956-228701352	K562	blood:	n/a	n/a
48	CEBPB	chr1:228700970-228701383	K562	blood:	n/a	chr1:228701235-228701248
49	ZNF274	chr1:228700896-228701532	K562	blood:	n/a	n/a
50	POLR2A	chr1:228699934-228701457	PBDE	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228638761..228647671-chr1:228695176..228704605,18	K562	blood:
2	chr1:228677727..228683972-chr1:228696742..228702359,8	K562	blood:
3	chr1:228700560..228702941-chr1:228707432..228709200,2	K562	blood:
4	chr1:228268869..228271597-chr1:228699816..228701498,2	K562	blood:
5	chr1:228674158..228676652-chr1:228698714..228701340,3	K562	blood:
6	chr1:228594895..228597342-chr1:228698615..228701560,2	K562	blood:
7	chr1:228700560..228702388-chr1:228707386..228709200,2	K562	blood:
8	chr1:228700627..228702653-chr1:228703677..228705414,2	K562	blood:
9	chr1:228678361..228680041-chr1:228700662..228702359,2	K562	blood:

No data

Variant related genes	Relation type
BTNL10	TF binding region
ENSG00000196890	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000231563	Chromatin interaction
ENSG00000168159	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10753451	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10753452	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10799479	0.90[EUR][1000 genomes]
rs10916329	0.85[EUR][1000 genomes]
rs10916338	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12028431	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12035708	0.81[EUR][1000 genomes]
rs12060006	0.81[EUR][1000 genomes]
rs12140890	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12542	0.92[EUR][1000 genomes]
rs1925714	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1925717	0.82[EUR][1000 genomes]
rs1925721	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1925722	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1925730	0.90[EUR][1000 genomes]
rs2182200	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35598069	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35724040	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4147255	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4147256	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4412590	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4653554	0.92[EUR][1000 genomes]
rs4653558	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4653966	0.92[EUR][1000 genomes]
rs4653968	0.89[EUR][1000 genomes]
rs4653969	0.88[EUR][1000 genomes]
rs4653970	0.88[EUR][1000 genomes]
rs6426507	0.83[EUR][1000 genomes]
rs6669744	0.89[EUR][1000 genomes]
rs6670856	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6678145	0.89[EUR][1000 genomes]
rs728964	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7415895	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs744668	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7533560	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
3	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv549296	chr1:228585837-228720480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases
5	nsv549297	chr1:228681195-228720480	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv468305	chr1:228681195-228731677	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv549298	chr1:228681195-228731677	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv947521	chr1:228698244-228704499	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228697600-228702400	Weak transcription	Esophagus	oesophagus
2	chr1:228699000-228702600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:228699200-228701400	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:228699600-228701400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:228699800-228701400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr1:228699800-228701600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:228700200-228701200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:228700200-228701400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
9	chr1:228700200-228701400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:228700400-228701600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:228700400-228701600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:228700400-228701600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:228700600-228701200	Enhancers	Primary T cells from cord blood	blood
14	chr1:228700600-228701200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:228700600-228701200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:228700600-228701200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:228700600-228701200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:228700600-228701600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:228700800-228701400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:228701000-228701200	Enhancers	K562	blood

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