Variant report

Variant	rs16829823
Chromosome Location	chr2:152118479-152118480
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	EP300	chr2:152118248-152118611	GM12878	blood:	n/a	chr2:152118256-152118272
2	CHD1	chr2:152117774-152118593	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:152117784-152118608	H1-hESC	embryonic stem cell:	n/a	n/a
4	NANOG	chr2:152118207-152118505	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr2:152118006-152118516	H1-hESC	embryonic stem cell:	n/a	n/a
6	GTF2B	chr2:152118290-152118489	K562	blood:	n/a	n/a
7	FOXP2	chr2:152117723-152118526	PFSK-1	brain:	n/a	n/a
8	MYC	chr2:152117464-152118925	K562	blood:	n/a	chr2:152118180-152118189
9	RFX5	chr2:152117856-152118482	HepG2	liver:	n/a	chr2:152118449-152118457
10	TAF1	chr2:152118133-152118650	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr2:152117598-152118580	K562	blood:	n/a	n/a
12	EP300	chr2:152117113-152118830	K562	blood:	n/a	chr2:152118072-152118088 chr2:152118113-152118122 chr2:152118256-152118272
13	RCOR1	chr2:152117169-152118740	K562	blood:	n/a	n/a
14	MYC	chr2:152118200-152118531	MCF-7	breast:	n/a	n/a
15	IRF1	chr2:152117774-152118832	K562	blood:	n/a	chr2:152118326-152118340 chr2:152118331-152118344 chr2:152118327-152118344 chr2:152118333-152118347 chr2:152118329-152118343 chr2:152118331-152118341 chr2:152118330-152118344 chr2:152118326-152118339 chr2:152118326-152118337 chr2:152118331-152118351 chr2:152118326-152118339 chr2:152118330-152118344 chr2:152118331-152118345 chr2:152118326-152118339 chr2:152118327-152118348 chr2:152118327-152118341 chr2:152118325-152118345 chr2:152118331-152118342 chr2:152118332-152118343 chr2:152118326-152118339 chr2:152118332-152118346
16	MYC	chr2:152118179-152118579	H1-hESC	embryonic stem cell:	n/a	chr2:152118180-152118189
17	TAL1	chr2:152117054-152118635	K562	blood:	n/a	n/a
18	E2F4	chr2:152118283-152118791	MCF10A-Er-Src	breast:	n/a	chr2:152118759-152118768
19	YY1	chr2:152117577-152118510	GM12891	blood:	n/a	chr2:152118242-152118251 chr2:152118113-152118122
20	TAF1	chr2:152118086-152118605	K562	blood:	n/a	n/a
21	CUX1	chr2:152118365-152118551	GM12878	blood:	n/a	n/a
22	NR2F2	chr2:152116867-152119166	K562	blood:	n/a	n/a
23	MAX	chr2:152117681-152118675	H1-hESC	embryonic stem cell:	n/a	chr2:152118180-152118189
24	POLR2A	chr2:152117704-152118596	GM10847	blood:	n/a	n/a
25	POLR2A	chr2:152117504-152118770	GM12892	blood:	n/a	n/a
26	CEBPB	chr2:152117833-152118663	Hela-S3	cervix:	n/a	chr2:152118480-152118491
27	ZNF143	chr2:152117683-152118812	K562	blood:	n/a	n/a
28	POLR2A	chr2:152118125-152118569	SK-N-MC	brain:	n/a	n/a
29	CTCF	chr2:152118380-152118530	NHDF-neo	bronchial:	n/a	n/a
30	POLR2A	chr2:152117335-152118848	K562	blood:	n/a	n/a
31	E2F6	chr2:152118243-152118538	K562	blood:	n/a	n/a
32	E2F6	chr2:152117649-152118622	H1-hESC	embryonic stem cell:	n/a	chr2:152118155-152118170
33	REST	chr2:152117785-152118684	HL-60	blood:	n/a	chr2:152118496-152118516 chr2:152118074-152118087
34	NFIC	chr2:152117327-152118855	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:152118146-152118546	Hela-S3	cervix:	n/a	n/a
36	STAT5A	chr2:152117720-152118639	GM12878	blood:	n/a	chr2:152118332-152118343
37	SP1	chr2:152118138-152118666	A549	lung:	n/a	n/a
38	ZNF143	chr2:152118231-152118573	H1-hESC	embryonic stem cell:	n/a	n/a
39	STAT3	chr2:152118304-152118716	MCF10A-Er-Src	breast:	n/a	chr2:152118332-152118343
40	TCF3	chr2:152118290-152118522	GM12878	blood:	n/a	n/a
41	EP300	chr2:152118026-152118829	A549	lung:	n/a	chr2:152118072-152118088 chr2:152118113-152118122 chr2:152118256-152118272
42	POLR2A	chr2:152117193-152118956	GM19099	blood:	n/a	n/a
43	JUND	chr2:152118327-152118630	H1-hESC	embryonic stem cell:	n/a	chr2:152118550-152118561
44	POLR2A	chr2:152117653-152118670	HL-60	blood:	n/a	n/a
45	MAX	chr2:152117638-152118660	H1-hESC	embryonic stem cell:	n/a	chr2:152118180-152118189
46	CTCF	chr2:152118440-152118590	AG04449	skin:	n/a	n/a
47	EP300	chr2:152117536-152118624	GM12878	blood:	n/a	chr2:152118072-152118088 chr2:152118113-152118122 chr2:152118256-152118272
48	POLR2A	chr2:152117549-152118615	GM12891	blood:	n/a	n/a
49	MAX	chr2:152117802-152118714	A549	lung:	n/a	chr2:152118180-152118189
50	POLR2A	chr2:152117480-152118655	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:152118471-152118521	PANC-1	pancreas:	n/a
2	chr2:152118471-152118521	SK-N-MC	brain:	n/a
3	chr2:152118459-152118509	HCM	heart:	n/a
4	chr2:152118459-152118509	NH-A	brain:	n/a
5	chr2:152118435-152118485	LNCaP	prostate:	n/a
6	chr2:152118435-152118485	SK-N-SH	brain:	n/a
7	chr2:152118435-152118485	HCT-116	colon:	n/a
8	chr2:152118471-152118521	GM12891	blood:	n/a
9	chr2:152118459-152118509	IMR90	lung:	fetal
10	chr2:152118471-152118521	MCF-7	breast:	n/a
11	chr2:152118435-152118485	HRCEpiC	kidney:	n/a
12	chr2:152118471-152118521	Hepatocyte	liver:	n/a
13	chr2:152118435-152118485	GM12892	blood:	n/a
14	chr2:152118471-152118521	SK-N-SH_RA	brain:	n/a
15	chr2:152118471-152118521	MCF10A-Er-Src	breast:	n/a
16	chr2:152118435-152118485	HL-60	blood:	n/a
17	chr2:152118459-152118509	CMK	blood:	n/a
18	chr2:152118459-152118509	HEEpiC	esophagus:	n/a
19	chr2:152118459-152118509	HRPEpiC	eye:	n/a
20	chr2:152118459-152118509	AG04450	lung:	fetal
21	chr2:152118435-152118485	NH-A	brain:	n/a
22	chr2:152118471-152118521	H1-hESC	embryonic stem cell:	embryo
23	chr2:152118435-152118485	HNPCEpiC	eye:	n/a
24	chr2:152118459-152118509	A549	lung:	n/a
25	chr2:152118459-152118509	Hepatocyte	liver:	n/a
26	chr2:152118435-152118485	PFSK-1	brain:	n/a
27	chr2:152118435-152118485	NHBE	bronchial:	n/a
28	chr2:152118459-152118509	U87	brain:	n/a
29	chr2:152118471-152118521	HRPEpiC	eye:	n/a
30	chr2:152118459-152118509	ovcar-3	ovarian:	n/a
31	chr2:152118471-152118521	AG09309	skin:	n/a
32	chr2:152118471-152118521	HCF	heart:	n/a
33	chr2:152118435-152118485	HPAEpiC	pulmonary alveolar:	n/a
34	chr2:152118435-152118485	Jurkat	blood:	n/a
35	chr2:152118435-152118485	HMEC	breast:	n/a
36	chr2:152118471-152118521	NHDF-neo	bronchial:	n/a
37	chr2:152118459-152118509	Jurkat	blood:	n/a
38	chr2:152118459-152118509	HNPCEpiC	eye:	n/a
39	chr2:152118435-152118485	HAEpiC	amniotic membrane:	n/a
40	chr2:152118471-152118521	HCT-116	colon:	n/a
41	chr2:152118471-152118521	HNPCEpiC	eye:	n/a
42	chr2:152118471-152118521	HMEC	breast:	n/a
43	chr2:152118435-152118485	T-47D	breast:	n/a
44	chr2:152118471-152118521	ovcar-3	ovarian:	n/a
45	chr2:152118435-152118485	MCF-7	breast:	n/a
46	chr2:152118435-152118485	AG09319	gingival:	n/a
47	chr2:152118435-152118485	GM19239	blood:	n/a
48	chr2:152118471-152118521	NT2-D1	testis:	n/a
49	chr2:152118435-152118485	SK-N-SH_RA	brain:	n/a
50	chr2:152118471-152118521	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:152114220..152115726-chr2:152118400..152119936,2	K562	blood:
2	chr2:152117804..152120182-chr2:152144785..152147621,2	MCF-7	breast:
3	chr2:152115426..152120009-chr2:152142898..152146726,5	K562	blood:
4	chr2:152116994..152118893-chr2:152266218..152268136,2	MCF-7	breast:
5	chr2:152116678..152120470-chr2:152265032..152268454,8	MCF-7	breast:
6	chr2:152116022..152119511-chr2:152263980..152267786,5	K562	blood:
7	chr2:152116868..152120610-chr2:152144685..152147660,4	MCF-7	breast:
8	chr2:152117778..152118631-chr7:26240204..26240803,2	NB4	blood:
9	chr2:152117973..152120026-chr2:152143620..152147532,3	K562	blood:

Variant related genes	Relation type
RBM43	TF binding region
RBM43	CpG island
ENSG00000122565	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000080345	Chromatin interaction
ENSG00000123609	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12621525	1.00[CHB][hapmap]
rs16829825	0.88[YRI][hapmap];0.97[AFR][1000 genomes]
rs16829833	0.85[CHB][hapmap]
rs16829835	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs289872	0.83[ASN][1000 genomes]
rs289873	0.83[ASN][1000 genomes]
rs289874	0.83[ASN][1000 genomes]
rs289875	0.83[ASN][1000 genomes]
rs289876	0.83[ASN][1000 genomes]
rs289881	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs289884	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs289885	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs289888	0.86[ASN][1000 genomes]
rs289889	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs289890	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs289891	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs289917	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs289925	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs289926	0.86[ASN][1000 genomes]
rs391852	0.83[ASN][1000 genomes]
rs4665120	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 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	chr2:152116800-152118600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:152116800-152118600	Active TSS	Rectal Smooth Muscle	rectum
3	chr2:152116800-152118800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:152116800-152118800	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:152117000-152118600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:152117000-152118600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:152117000-152118600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr2:152117000-152118600	Active TSS	Fetal Lung	lung
9	chr2:152117000-152118600	Active TSS	Fetal Muscle Leg	muscle
10	chr2:152117000-152118600	Active TSS	Fetal Stomach	stomach
11	chr2:152117000-152118600	Active TSS	A549	lung
12	chr2:152117000-152118600	Active TSS	NHDF-Ad	bronchial
13	chr2:152117000-152118600	Active TSS	NHLF	lung
14	chr2:152117000-152118800	Active TSS	Colon Smooth Muscle	Colon
15	chr2:152117000-152119000	Active TSS	Brain Anterior Caudate	brain
16	chr2:152117200-152118600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:152117200-152118600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:152117200-152118600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr2:152117200-152118600	Active TSS	Fetal Kidney	kidney
20	chr2:152117200-152118600	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr2:152117200-152118800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr2:152117200-152118800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:152117200-152118800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:152117200-152118800	Active TSS	Aorta	Aorta
25	chr2:152117200-152118800	Active TSS	Brain Hippocampus Middle	brain
26	chr2:152117200-152118800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:152117200-152118800	Active TSS	Fetal Intestine Large	intestine
28	chr2:152117200-152118800	Active TSS	Fetal Muscle Trunk	muscle
29	chr2:152117200-152118800	Active TSS	Ovary	ovary
30	chr2:152117200-152118800	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr2:152117200-152118800	Active TSS	Thymus	Thymus
32	chr2:152117200-152119000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:152117400-152118600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr2:152117400-152118600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:152117400-152118600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:152117400-152118600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:152117400-152118600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:152117400-152118600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:152117400-152118600	Active TSS	Brain Angular Gyrus	brain
40	chr2:152117400-152118600	Active TSS	Brain Cingulate Gyrus	brain
41	chr2:152117400-152118600	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr2:152117400-152118600	Active TSS	Brain Substantia Nigra	brain
43	chr2:152117400-152118600	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr2:152117400-152118600	Active TSS	Small Intestine	intestine
45	chr2:152117400-152118600	Active TSS	Stomach Mucosa	stomach
46	chr2:152117400-152118800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:152117400-152118800	Active TSS	Colonic Mucosa	Colon
48	chr2:152117400-152118800	Active TSS	Psoas Muscle	Psoas
49	chr2:152117400-152119000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr2:152117600-152118600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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