Variant report

Variant	rs16865351
Chromosome Location	chr2:178418111-178418112
allele	C/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	POLR2A	chr2:178417290-178418123	K562	blood:	n/a	n/a
2	MYBL2	chr2:178416980-178418214	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:178417234-178418640	U87	brain:	n/a	n/a
4	MAX	chr2:178417341-178418239	H1-hESC	embryonic stem cell:	n/a	chr2:178417521-178417530
5	POLR2A	chr2:178417468-178418197	SK-N-MC	brain:	n/a	n/a
6	MAX	chr2:178417361-178418310	A549	lung:	n/a	chr2:178417521-178417530
7	MBD4	chr2:178417234-178418425	HepG2	liver:	n/a	n/a
8	BCLAF1	chr2:178417166-178418342	GM12878	blood:	n/a	chr2:178417797-178417810 chr2:178417537-178417546 chr2:178417897-178417906 chr2:178417894-178417903
9	MAZ	chr2:178417399-178418348	GM12878	blood:	n/a	chr2:178417521-178417530
10	RUNX3	chr2:178417168-178418244	GM12878	blood:	n/a	n/a
11	RUNX3	chr2:178417192-178418333	GM12878	blood:	n/a	n/a
12	TRIM28	chr2:178417187-178418483	K562	blood:	n/a	n/a
13	POLR2A	chr2:178416414-178418517	H1-hESC	embryonic stem cell:	n/a	n/a
14	CBX3	chr2:178416623-178418494	K562	blood:	n/a	n/a
15	RAD21	chr2:178417260-178418135	H1-hESC	embryonic stem cell:	n/a	n/a
16	BHLHE40	chr2:178417369-178418271	K562	blood:	n/a	n/a
17	MBD4	chr2:178417304-178418145	HepG2	liver:	n/a	n/a
18	MYC	chr2:178417360-178418607	K562	blood:	n/a	chr2:178417521-178417530
19	IRF1	chr2:178417475-178418141	K562	blood:	n/a	n/a
20	REST	chr2:178417376-178418164	A549	lung:	n/a	n/a
21	WRNIP1	chr2:178417423-178418341	GM12878	blood:	n/a	n/a
22	MAFK	chr2:178417718-178418224	Hela-S3	cervix:	n/a	chr2:178417963-178417977
23	MAX	chr2:178417344-178418518	NB4	blood:	n/a	chr2:178417521-178417530
24	TAF1	chr2:178416836-178418223	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr2:178417367-178418408	HepG2	liver:	n/a	n/a
26	IRF1	chr2:178417383-178418504	K562	blood:	n/a	chr2:178418186-178418200 chr2:178418184-178418197 chr2:178418184-178418204 chr2:178418185-178418198 chr2:178418185-178418197 chr2:178418183-178418197 chr2:178418185-178418199 chr2:178418183-178418197 chr2:178418180-178418201 chr2:178418185-178418197 chr2:178418185-178418198 chr2:178418184-178418198 chr2:178418184-178418194 chr2:178418185-178418196 chr2:178418185-178418198
27	MAX	chr2:178417402-178418198	Hela-S3	cervix:	n/a	chr2:178417521-178417530
28	E2F6	chr2:178416728-178418412	K562	blood:	n/a	chr2:178416950-178416961
29	GABPA	chr2:178417316-178418224	SK-N-SH	brain:	n/a	chr2:178417542-178417549
30	HCFC1	chr2:178417289-178418412	K562	blood:	n/a	n/a
31	RCOR1	chr2:178417247-178418429	K562	blood:	n/a	n/a
32	MAX	chr2:178417345-178418204	SK-N-SH	brain:	n/a	chr2:178417521-178417530
33	TCF12	chr2:178417055-178418359	A549	lung:	n/a	chr2:178418037-178418045 chr2:178418187-178418194
34	MAX	chr2:178417317-178418399	A549	lung:	n/a	chr2:178417521-178417530
35	CUX1	chr2:178417428-178418421	K562	blood:	n/a	n/a
36	IRF1	chr2:178417418-178418472	K562	blood:	n/a	chr2:178418186-178418200 chr2:178418184-178418197 chr2:178418184-178418204 chr2:178418185-178418198 chr2:178418185-178418197 chr2:178418183-178418197 chr2:178418185-178418199 chr2:178418183-178418197 chr2:178418180-178418201 chr2:178418185-178418197 chr2:178418185-178418198 chr2:178418184-178418198 chr2:178418184-178418194 chr2:178418185-178418196 chr2:178418185-178418198
37	ZNF143	chr2:178417257-178418343	GM12878	blood:	n/a	chr2:178417705-178417723 chr2:178417760-178417775 chr2:178417764-178417782 chr2:178417759-178417778
38	POLR2A	chr2:178417330-178418139	HUVEC	blood vessel:	n/a	n/a
39	E2F4	chr2:178417564-178418413	MCF10A-Er-Src	breast:	n/a	n/a
40	KAP1	chr2:178417365-178418488	HEK293	kidney:	n/a	n/a
41	POLR2A	chr2:178416726-178418131	HepG2	liver:	n/a	n/a
42	E2F6	chr2:178417675-178418217	K562	blood:	n/a	n/a
43	POLR2A	chr2:178417263-178418277	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr2:178416855-178418408	MCF10A-Er-Src	breast:	n/a	n/a
45	MAX	chr2:178417296-178418157	ECC-1	luminal epithelium:	n/a	chr2:178417521-178417530
46	ELF1	chr2:178417255-178418182	HCT-116	colon:	n/a	chr2:178417533-178417546 chr2:178417536-178417545
47	E2F6	chr2:178417564-178418487	A549	lung:	n/a	n/a
48	YY1	chr2:178417173-178418175	H1-hESC	embryonic stem cell:	n/a	n/a
49	EBF1	chr2:178418083-178418203	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:178416679-178418274	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:178027921..178029669-chr2:178417359..178420313,2	K562	blood:
2	chr2:178075873..178078560-chr2:178417023..178418935,2	K562	blood:
3	chr2:178256384..178258999-chr2:178416044..178418294,3	K562	blood:
4	chr2:178417775..178419456-chr2:178465750..178469072,3	K562	blood:
5	chr2:178256384..178259130-chr2:178415368..178419750,5	K562	blood:
6	chr2:178416378..178418708-chr2:178482397..178484777,2	MCF-7	breast:
7	chr2:178075873..178078560-chr2:178415979..178418935,3	K562	blood:

Variant related genes	Relation type
TTC30B	TF binding region
ENSG00000018510	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000236501	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000237655	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000197557	Chromatin interaction
ENSG00000213963	Chromatin interaction
ENSG00000263721	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11901288	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11902352	0.82[ASN][1000 genomes]
rs16865189	1.00[AMR][1000 genomes]
rs16865202	1.00[AMR][1000 genomes]
rs16865214	1.00[AMR][1000 genomes]
rs16865224	1.00[AMR][1000 genomes]
rs16865278	1.00[AMR][1000 genomes]
rs16865286	1.00[AMR][1000 genomes]
rs16865294	1.00[AMR][1000 genomes]
rs16865305	1.00[AMR][1000 genomes]
rs16865306	1.00[AMR][1000 genomes]
rs16865322	1.00[AMR][1000 genomes]
rs16865324	1.00[AMR][1000 genomes]
rs16865337	1.00[AMR][1000 genomes]
rs16865338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16865342	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865343	1.00[AMR][1000 genomes]
rs16865357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865440	1.00[AMR][1000 genomes]
rs16865451	1.00[AMR][1000 genomes]
rs16865455	1.00[AMR][1000 genomes]
rs16865473	1.00[AMR][1000 genomes]
rs16865527	1.00[AMR][1000 genomes]
rs16865533	1.00[AMR][1000 genomes]
rs1965180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59466016	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60102399	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712695	0.82[ASN][1000 genomes]
rs6760470	0.82[ASN][1000 genomes]
rs7557924	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 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	chr2:178416200-178418400	Active TSS	Rectal Smooth Muscle	rectum
2	chr2:178416600-178418200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:178416600-178418400	Active TSS	Fetal Lung	lung
4	chr2:178416600-178418400	Active TSS	A549	lung
5	chr2:178416600-178418600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:178416600-178418600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr2:178416600-178418600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:178416600-178418600	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:178416600-178418600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:178416600-178418600	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:178416600-178418600	Active TSS	HSMM	muscle
12	chr2:178416800-178418200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:178416800-178418200	Active TSS	Thymus	Thymus
14	chr2:178416800-178418400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:178416800-178418400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:178416800-178418400	Active TSS	HSMMtube	muscle
17	chr2:178416800-178418400	Active TSS	NH-A	brain
18	chr2:178416800-178418400	Active TSS	NHLF	lung
19	chr2:178416800-178418600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:178416800-178418600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr2:178416800-178418600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:178416800-178418600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:178416800-178418600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr2:178416800-178418600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:178416800-178418600	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr2:178416800-178418600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:178416800-178418600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:178416800-178418600	Active TSS	Fetal Intestine Large	intestine
29	chr2:178416800-178418600	Active TSS	Fetal Intestine Small	intestine
30	chr2:178417000-178418200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:178417000-178418200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:178417000-178418200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:178417000-178418200	Active TSS	Fetal Kidney	kidney
34	chr2:178417000-178418200	Active TSS	Placenta Amnion	Placenta Amnion
35	chr2:178417000-178418200	Active TSS	NHEK	skin
36	chr2:178417000-178418400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr2:178417000-178418400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:178417000-178418400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:178417000-178418400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:178417000-178418400	Active TSS	Aorta	Aorta
41	chr2:178417000-178418400	Active TSS	Brain Angular Gyrus	brain
42	chr2:178417000-178418400	Active TSS	Brain Hippocampus Middle	brain
43	chr2:178417000-178418400	Active TSS	Brain Substantia Nigra	brain
44	chr2:178417000-178418400	Active TSS	Esophagus	oesophagus
45	chr2:178417000-178418400	Active TSS	Fetal Heart	heart
46	chr2:178417000-178418400	Active TSS	Fetal Stomach	stomach
47	chr2:178417000-178418400	Active TSS	Gastric	stomach
48	chr2:178417000-178418400	Active TSS	Pancreas	Pancrea
49	chr2:178417000-178418400	Active TSS	Right Ventricle	heart
50	chr2:178417000-178418400	Active TSS	Stomach Mucosa	stomach

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