Variant report

Variant	rs16832486
Chromosome Location	chr1:160832528-160832529
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	EBF1	chr1:160832455-160832812	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:160832219-160832791	GM12878	blood:	n/a	n/a
3	EP300	chr1:160832426-160832923	GM12878	blood:	n/a	n/a
4	BCLAF1	chr1:160832427-160832904	GM12878	blood:	n/a	n/a
5	RUNX3	chr1:160832426-160832921	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:160831743-160832969	HL-60	blood:	n/a	n/a
7	MAX	chr1:160831778-160833081	NB4	blood:	n/a	chr1:160832086-160832095 chr1:160832380-160832389
8	CTCF	chr1:160832520-160832670	GM12875	blood:	n/a	n/a
9	ATF2	chr1:160832358-160832826	GM12878	blood:	n/a	n/a
10	WRNIP1	chr1:160832373-160832760	GM12878	blood:	n/a	n/a
11	REST	chr1:160831882-160832898	HL-60	blood:	n/a	chr1:160832663-160832673
12	POLR2A	chr1:160832431-160832703	GM12878	blood:	n/a	n/a
13	ZEB1	chr1:160832183-160832669	GM12878	blood:	n/a	n/a
14	TCF12	chr1:160832477-160832754	GM12878	blood:	n/a	n/a
15	STAT1	chr1:160832396-160832806	GM12878	blood:	n/a	n/a
16	PAX5	chr1:160832440-160832797	GM12878	blood:	n/a	n/a
17	CTCF	chr1:160832500-160832531	GM19239	blood:	n/a	n/a
18	EP300	chr1:160832489-160832795	GM12878	blood:	n/a	n/a
19	PAX5	chr1:160832527-160832784	GM12878	blood:	n/a	n/a
20	SPI1	chr1:160831681-160832921	HL-60	blood:	n/a	n/a
21	SMC3	chr1:160832492-160832640	GM12878	blood:	n/a	n/a
22	RCOR1	chr1:160832307-160832818	GM12878	blood:	n/a	n/a
23	ZNF143	chr1:160832506-160832805	GM12878	blood:	n/a	n/a
24	MAZ	chr1:160832470-160832837	GM12878	blood:	n/a	n/a
25	EP300	chr1:160832467-160832822	GM12878	blood:	n/a	n/a
26	MTA3	chr1:160832411-160832912	GM12878	blood:	n/a	n/a
27	CHD2	chr1:160832463-160832829	GM12878	blood:	n/a	n/a
28	PAX5	chr1:160832336-160832872	GM12878	blood:	n/a	n/a
29	BCL11A	chr1:160832394-160832781	GM12878	blood:	n/a	n/a
30	CHD1	chr1:160832506-160832730	GM12878	blood:	n/a	n/a
31	BHLHE40	chr1:160832431-160832763	GM12878	blood:	n/a	chr1:160832657-160832673
32	TCF12	chr1:160832463-160832793	GM12878	blood:	n/a	n/a
33	NRF1	chr1:160832458-160832989	GM12878	blood:	n/a	n/a
34	NFIC	chr1:160832369-160832950	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:160832362-160832782	GM19099	blood:	n/a	n/a
36	RUNX3	chr1:160832321-160832892	GM12878	blood:	n/a	n/a
37	TBP	chr1:160832498-160832776	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:160832486-160832604	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:160832407-160832824	GM18951	blood:	n/a	n/a
40	POLR2A	chr1:160831680-160832998	HL-60	blood:	n/a	n/a
41	MXI1	chr1:160832238-160832821	GM12878	blood:	n/a	n/a
42	MAX	chr1:160832164-160832864	GM12878	blood:	n/a	chr1:160832380-160832389
43	EBF1	chr1:160832423-160832857	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:160832405-160832694	GM12878	blood:	n/a	n/a
45	EBF1	chr1:160832474-160832845	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CD244	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11265494	0.87[AMR][1000 genomes]
rs11265497	0.89[YRI][hapmap]
rs12060017	0.87[AMR][1000 genomes]
rs12065420	0.87[AMR][1000 genomes]
rs12073515	0.87[AMR][1000 genomes]
rs12074019	0.87[AMR][1000 genomes]
rs12084061	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12354107	0.87[AMR][1000 genomes]
rs12354108	0.87[AMR][1000 genomes]
rs16832506	0.87[AMR][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	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160828600-160835000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:160830000-160833000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr1:160830000-160833200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:160830000-160833800	Enhancers	Primary B cells from cord blood	blood
5	chr1:160830200-160834200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr1:160830600-160832600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr1:160830600-160833000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:160830600-160833000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:160830600-160833600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr1:160830800-160832600	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr1:160830800-160832600	Enhancers	Spleen	Spleen
12	chr1:160830800-160832800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr1:160831200-160832800	Weak transcription	Ovary	ovary
14	chr1:160831200-160833600	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:160831600-160832800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr1:160831800-160832800	Enhancers	Placenta	Placenta
17	chr1:160831800-160833000	Enhancers	Primary T cells from cord blood	blood
18	chr1:160831800-160833000	Enhancers	Fetal Heart	heart
19	chr1:160831800-160834400	Enhancers	GM12878-XiMat	blood
20	chr1:160832000-160832600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr1:160832000-160832800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr1:160832200-160832600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:160832200-160832600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:160832200-160832600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:160832200-160832600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:160832200-160832600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr1:160832200-160832600	Enhancers	Esophagus	oesophagus
28	chr1:160832200-160832800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:160832200-160832800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:160832200-160833000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:160832200-160833000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:160832200-160837400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:160832400-160832600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:160832400-160832600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:160832400-160832600	Active TSS	Liver	Liver
36	chr1:160832400-160832600	Flanking Active TSS	Colonic Mucosa	Colon
37	chr1:160832400-160832600	Active TSS	Duodenum Mucosa	Duodenum
38	chr1:160832400-160832600	Genic enhancers	Right Atrium	heart
39	chr1:160832400-160832600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr1:160832400-160832800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr1:160832400-160832800	Active TSS	Brain Hippocampus Middle	brain
42	chr1:160832400-160832800	Enhancers	Thymus	Thymus
43	chr1:160832400-160832800	Bivalent/Poised TSS	HepG2	liver
44	chr1:160832400-160833000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:160832400-160833000	Bivalent Enhancer	Adipose Nuclei	Adipose
46	chr1:160832400-160833000	Enhancers	Fetal Intestine Small	intestine
47	chr1:160832400-160833000	Enhancers	Right Ventricle	heart
48	chr1:160832400-160833800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr1:160832400-160834000	Enhancers	Fetal Thymus	thymus

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