Variant report

Variant	rs4233371
Chromosome Location	chr1:161473125-161473126
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr1:161472793-161473268	K562	blood:	n/a	n/a
2	IRF1	chr1:161472727-161473279	K562	blood:	n/a	n/a
3	REST	chr1:161472840-161473130	K562	blood:	n/a	n/a
4	EP300	chr1:161472734-161473237	K562	blood:	n/a	n/a
5	MYC	chr1:161472813-161473161	K562	blood:	n/a	n/a
6	TEAD4	chr1:161472197-161473430	K562	blood:	n/a	n/a
7	RCOR1	chr1:161472850-161473317	K562	blood:	n/a	n/a
8	JUN	chr1:161472816-161473324	K562	blood:	n/a	n/a
9	FOSL1	chr1:161472804-161473315	K562	blood:	n/a	chr1:161473054-161473065
10	MYC	chr1:161472839-161473147	K562	blood:	n/a	n/a
11	NR2F2	chr1:161472554-161473376	K562	blood:	n/a	n/a
12	CBX3	chr1:161472739-161473290	K562	blood:	n/a	n/a
13	TRIM28	chr1:161472786-161473191	K562	blood:	n/a	n/a
14	TEAD4	chr1:161472737-161473151	K562	blood:	n/a	n/a
15	REST	chr1:161472803-161473186	K562	blood:	n/a	n/a
16	STAT5A	chr1:161472633-161473193	K562	blood:	n/a	chr1:161472884-161472898
17	CUX1	chr1:161472159-161473177	K562	blood:	n/a	n/a
18	ATF1	chr1:161472813-161473235	K562	blood:	n/a	n/a
19	MAX	chr1:161473037-161473198	K562	blood:	n/a	n/a
20	FOS	chr1:161472862-161473231	K562	blood:	n/a	n/a
21	ARID3A	chr1:161472641-161473201	K562	blood:	n/a	n/a
22	TBL1XR1	chr1:161472770-161473266	K562	blood:	n/a	n/a
23	TBP	chr1:161472908-161473214	K562	blood:	n/a	n/a
24	MAZ	chr1:161472933-161473190	K562	blood:	n/a	n/a
25	GTF3C2	chr1:161472912-161473775	K562	blood:	n/a	n/a
26	STAT3	chr1:161473092-161473284	MCF10A-Er-Src	breast:	n/a	n/a
27	JUN	chr1:161472088-161473811	K562	blood:	n/a	n/a
28	TAL1	chr1:161472745-161473148	K562	blood:	n/a	n/a
29	MAFF	chr1:161472446-161473130	K562	blood:	n/a	chr1:161472615-161472633
30	TBL1XR1	chr1:161472820-161473130	K562	blood:	n/a	n/a
31	PML	chr1:161472663-161473190	K562	blood:	n/a	n/a
32	STAT5A	chr1:161472642-161473203	K562	blood:	n/a	chr1:161472884-161472898
33	JUN	chr1:161472620-161473250	K562	blood:	n/a	n/a
34	FOS	chr1:161472871-161473223	MCF10A-Er-Src	breast:	n/a	n/a
35	CCNT2	chr1:161472853-161473169	K562	blood:	n/a	n/a
36	JUN	chr1:161472780-161473224	K562	blood:	n/a	n/a
37	FOS	chr1:161472857-161473211	MCF10A-Er-Src	breast:	n/a	n/a
38	RCOR1	chr1:161472803-161473218	K562	blood:	n/a	n/a
39	STAT3	chr1:161472740-161473141	MCF10A-Er-Src	breast:	n/a	chr1:161472884-161472898 chr1:161472885-161472896
40	GATA2	chr1:161472705-161473189	K562	blood:	n/a	n/a
41	FOSL1	chr1:161472848-161473207	K562	blood:	n/a	chr1:161473054-161473065
42	JUND	chr1:161472777-161473271	K562	blood:	n/a	n/a
43	UBTF	chr1:161472909-161473214	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161470558..161474477-chr1:161475339..161478073,3	MCF-7	breast:
2	chr1:161455941..161458630-chr1:161472822..161475115,2	K562	blood:
3	chr1:161461381..161463283-chr1:161471737..161473755,3	K562	blood:
4	chr1:161461381..161462890-chr1:161471737..161473755,2	K562	blood:

No data

Variant related genes	Relation type
FCGR2A	TF binding region
ENSG00000143226	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10800309	0.87[AFR][1000 genomes]
rs11582349	0.85[EUR][1000 genomes]
rs6427595	0.83[AFR][1000 genomes]
rs6684960	0.81[AFR][1000 genomes]
rs6696854	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
7	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
8	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
9	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
10	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
11	nsv433042	chr1:161372038-161673682	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv433053	chr1:161389417-161673682	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv3243	chr1:161391435-161476893	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv433075	chr1:161395555-161673682	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
15	nsv831725	chr1:161403030-161666732	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	esv2757757	chr1:161406313-161624427	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	esv1821964	chr1:161410458-161642332	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	esv18665	chr1:161411989-161544650	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	esv1812323	chr1:161413114-161624425	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	esv1814016	chr1:161413114-161624425	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv427841	chr1:161413114-161624425	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv831736	chr1:161413123-161624424	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	esv1824713	chr1:161414555-161642332	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	esv1821631	chr1:161414640-161644896	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
26	esv2750812	chr1:161463498-161639559	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
27	esv2752696	chr1:161463498-161639559	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	esv2750813	chr1:161463498-161673682	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
29	esv2750814	chr1:161463498-161673682	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
30	esv2755678	chr1:161463498-161678377	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
31	esv2752664	chr1:161463601-161673682	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
32	esv2756399	chr1:161463814-161639559	Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
33	nsv433086	chr1:161465420-161639559	Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
34	esv1799809	chr1:161467963-161650576	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161469200-161475200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:161469600-161475000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:161470200-161475000	Weak transcription	GM12878-XiMat	blood
4	chr1:161470200-161475200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:161470400-161475600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:161471400-161475200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:161471600-161474400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:161471600-161474400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:161472000-161475400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:161472800-161473200	Enhancers	K562	blood
11	chr1:161472800-161474400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:161473000-161473200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:161473000-161473400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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