Variant report

Variant	rs16859913
Chromosome Location	chr2:172751274-172751275
allele	C/T
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	CEBPB	chr2:172750125-172751381	K562	blood:	n/a	chr2:172750674-172750685 chr2:172750673-172750686
2	MAX	chr2:172750439-172751278	ECC-1	luminal epithelium:	n/a	chr2:172750865-172750874
3	SIN3A	chr2:172750248-172751382	H1-hESC	embryonic stem cell:	n/a	n/a
4	TRIM28	chr2:172750336-172751275	K562	blood:	n/a	n/a
5	MAX	chr2:172750261-172751384	HepG2	liver:	n/a	chr2:172750865-172750874
6	POLR2A	chr2:172750280-172751343	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr2:172750166-172751313	GM19099	blood:	n/a	n/a
8	KAP1	chr2:172749956-172751411	U2OS	brain:	n/a	n/a
9	TBL1XR1	chr2:172750460-172751310	GM12878	blood:	n/a	n/a
10	EP300	chr2:172750658-172751275	K562	blood:	n/a	chr2:172750803-172750812 chr2:172750823-172750832
11	POLR2A	chr2:172750393-172751334	PFSK-1	brain:	n/a	n/a
12	E2F6	chr2:172750330-172751311	K562	blood:	n/a	chr2:172750803-172750812 chr2:172750823-172750833 chr2:172751111-172751128
13	POLR2A	chr2:172750512-172751317	HUVEC	blood vessel:	n/a	n/a
14	TCF7L2	chr2:172750973-172751475	HEK293	kidney:	n/a	chr2:172751141-172751157 chr2:172751141-172751157
15	RELA	chr2:172750051-172751297	GM12891	blood:	n/a	chr2:172751024-172751033 chr2:172751024-172751033
16	TEAD4	chr2:172749785-172751436	K562	blood:	n/a	n/a
17	MAX	chr2:172750292-172751291	MCF-7	breast:	n/a	chr2:172750865-172750874
18	RELA	chr2:172749918-172751374	GM10847	blood:	n/a	chr2:172751024-172751033 chr2:172751024-172751033
19	TCF7L2	chr2:172750689-172751449	PANC-1	pancreas:	n/a	chr2:172751141-172751157 chr2:172751141-172751157
20	MAX	chr2:172750383-172751319	SK-N-SH	brain:	n/a	chr2:172750865-172750874
21	POLR2A	chr2:172749790-172751560	GM12891	blood:	n/a	n/a
22	MAFK	chr2:172750992-172751384	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:172750160-172751295	HUVEC	blood vessel:	n/a	n/a
24	TAF1	chr2:172750432-172751358	ECC-1	luminal epithelium:	n/a	n/a
25	NR2F2	chr2:172750040-172751593	K562	blood:	n/a	n/a
26	MXI1	chr2:172750336-172751282	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr2:172750501-172751370	K562	blood:	n/a	n/a
28	MAX	chr2:172750180-172751277	K562	blood:	n/a	chr2:172750865-172750874
29	MAX	chr2:172750293-172751306	SK-N-SH	brain:	n/a	chr2:172750865-172750874
30	MAX	chr2:172750402-172751403	A549	lung:	n/a	chr2:172750865-172750874
31	TEAD4	chr2:172750201-172751337	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:172750598-172751340	HepG2	liver:	n/a	n/a
33	CUX1	chr2:172751008-172751620	K562	blood:	n/a	n/a
34	RELA	chr2:172750360-172751567	GM19099	blood:	n/a	chr2:172751024-172751033 chr2:172751024-172751033
35	POLR2A	chr2:172750114-172751314	K562	blood:	n/a	n/a
36	ARID3A	chr2:172750965-172751421	HepG2	liver:	n/a	n/a
37	BHLHE40	chr2:172750385-172751676	K562	blood:	n/a	chr2:172750859-172750875
38	POLR2A	chr2:172750163-172751570	MCF10A-Er-Src	breast:	n/a	n/a
39	PML	chr2:172750162-172751299	K562	blood:	n/a	n/a
40	POLR2A	chr2:172749979-172751365	GM12878	blood:	n/a	n/a
41	MXI1	chr2:172750330-172751285	HepG2	liver:	n/a	n/a
42	MAX	chr2:172750146-172751476	A549	lung:	n/a	chr2:172750865-172750874
43	MYC	chr2:172750669-172751397	MCF10A-Er-Src	breast:	n/a	chr2:172750865-172750874
44	MAX	chr2:172750404-172751312	ECC-1	luminal epithelium:	n/a	chr2:172750865-172750874
45	MYC	chr2:172750315-172751350	K562	blood:	n/a	chr2:172750865-172750874
46	KAP1	chr2:172749788-172751387	HEK293	kidney:	n/a	n/a
47	UBTF	chr2:172750330-172751420	K562	blood:	n/a	n/a
48	GTF2F1	chr2:172750565-172751340	K562	blood:	n/a	n/a
49	TBL1XR1	chr2:172750341-172751421	K562	blood:	n/a	n/a
50	POLR2A	chr2:172750191-172751331	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:172749328..172751742-chr2:172775594..172779310,3	MCF-7	breast:
2	chr2:172707276..172709212-chr2:172750786..172752359,2	K562	blood:
3	chr2:172749212..172752099-chr2:172863500..172865923,3	MCF-7	breast:
4	chr2:172750934..172752603-chr2:172948877..172950816,2	MCF-7	breast:
5	chr2:172749065..172752809-chr2:172776821..172780584,7	K562	blood:
6	chr2:172750984..172752854-chr2:172776378..172780395,4	K562	blood:
7	chr16:18995213..18995850-chr2:172750648..172751335,2	Hela-S3	cervix:
8	chr2:172749385..172752362-chr2:172779098..172783248,3	MCF-7	breast:
9	chr2:172289011..172290991-chr2:172749560..172752051,2	K562	blood:
10	chr2:172543765..172545467-chr2:172749369..172751686,2	MCF-7	breast:

Variant related genes	Relation type
SLC25A12	TF binding region
ENSG00000115840	Chromatin interaction
ENSG00000170537	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000077380	Chromatin interaction
ENSG00000144355	Chromatin interaction
ENSG00000128708	Chromatin interaction
ENSG00000172878	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6746051	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1006214	chr2:172691689-172754296	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv536036	chr2:172691689-172754296	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv536037	chr2:172745597-172780616	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172748000-172751600	Active TSS	GM12878-XiMat	blood
2	chr2:172749600-172751400	Active TSS	Ovary	ovary
3	chr2:172749600-172751400	Active TSS	Psoas Muscle	Psoas
4	chr2:172749600-172751400	Active TSS	Right Atrium	heart
5	chr2:172749600-172751400	Active TSS	Right Ventricle	heart
6	chr2:172749600-172751600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:172749600-172751800	Active TSS	Stomach Smooth Muscle	stomach
8	chr2:172749800-172751400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:172749800-172751400	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr2:172749800-172751400	Active TSS	Colonic Mucosa	Colon
11	chr2:172749800-172751400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:172749800-172751400	Active TSS	HSMMtube	muscle
13	chr2:172749800-172751600	Active TSS	HSMM	muscle
14	chr2:172750000-172751400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:172750000-172751400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:172750000-172751400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:172750000-172751400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:172750000-172751400	Active TSS	Aorta	Aorta
19	chr2:172750000-172751400	Active TSS	Esophagus	oesophagus
20	chr2:172750000-172751400	Active TSS	Fetal Muscle Trunk	muscle
21	chr2:172750000-172751400	Active TSS	Stomach Mucosa	stomach
22	chr2:172750000-172751600	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr2:172750000-172751800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:172750000-172751800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr2:172750200-172751400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr2:172750200-172751400	Active TSS	H9 Cell Line	embryonic stem cell
27	chr2:172750200-172751400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:172750200-172751400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:172750200-172751400	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr2:172750200-172751400	Active TSS	A549	lung
31	chr2:172750200-172751600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:172750200-172751600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr2:172750200-172751600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:172750200-172751600	Active TSS	Fetal Brain Male	brain
35	chr2:172750200-172751800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:172750200-172751800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:172750400-172751400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr2:172750400-172751400	Active TSS	Brain Cingulate Gyrus	brain
39	chr2:172750400-172751400	Active TSS	Placenta Amnion	Placenta Amnion
40	chr2:172750400-172751600	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr2:172750400-172751600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr2:172750400-172751600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr2:172750400-172751600	Active TSS	Brain Hippocampus Middle	brain
44	chr2:172750600-172751400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:172750600-172751400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:172751000-172751400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr2:172751000-172751400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr2:172751000-172751400	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr2:172751000-172751400	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr2:172751000-172751400	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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