Variant report

Variant	rs13402190
Chromosome Location	chr2:169708220-169708221
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	TEAD4	chr2:169708035-169708939	K562	blood:	n/a	n/a
2	MAX	chr2:169708161-169708927	K562	blood:	n/a	chr2:169708216-169708225 chr2:169708215-169708226 chr2:169708215-169708226 chr2:169708216-169708225 chr2:169708214-169708227 chr2:169708211-169708230 chr2:169708215-169708225
3	MAX	chr2:169708122-169708875	K562	blood:	n/a	chr2:169708216-169708225 chr2:169708215-169708226 chr2:169708215-169708226 chr2:169708216-169708225 chr2:169708214-169708227 chr2:169708211-169708230 chr2:169708215-169708225
4	MYC	chr2:169708173-169708883	K562	blood:	n/a	chr2:169708216-169708225 chr2:169708215-169708226 chr2:169708215-169708226 chr2:169708216-169708225 chr2:169708214-169708227 chr2:169708211-169708230 chr2:169708215-169708225
5	EP300	chr2:169708118-169708986	K562	blood:	n/a	n/a
6	TRIM28	chr2:169707961-169709031	K562	blood:	n/a	n/a
7	CEBPB	chr2:169708113-169708821	K562	blood:	n/a	n/a
8	EP300	chr2:169708219-169708965	K562	blood:	n/a	n/a
9	SMARCA4	chr2:169707871-169708981	K562	blood:	n/a	n/a
10	JUN	chr2:169707367-169709802	K562	blood:	n/a	chr2:169709702-169709714 chr2:169709661-169709669 chr2:169709239-169709248
11	CEBPD	chr2:169708130-169709012	K562	blood:	n/a	n/a
12	BCLAF1	chr2:169708103-169708891	K562	blood:	n/a	chr2:169708860-169708869
13	USF1	chr2:169708038-169708632	K562	blood:	n/a	n/a
14	MYC	chr2:169708209-169708731	K562	blood:	n/a	chr2:169708216-169708225 chr2:169708215-169708226 chr2:169708215-169708226 chr2:169708216-169708225 chr2:169708214-169708227 chr2:169708211-169708230 chr2:169708215-169708225
15	CEBPB	chr2:169708185-169708753	K562	blood:	n/a	n/a
16	RCOR1	chr2:169708188-169708954	K562	blood:	n/a	n/a
17	POLR2A	chr2:169701379-169710346	K562	blood:	n/a	n/a
18	RCOR1	chr2:169708159-169708942	K562	blood:	n/a	n/a
19	MAX	chr2:169708132-169708786	K562	blood:	n/a	chr2:169708216-169708225 chr2:169708215-169708226 chr2:169708215-169708226 chr2:169708216-169708225 chr2:169708214-169708227 chr2:169708211-169708230 chr2:169708215-169708225
20	FOS	chr2:169708216-169708628	MCF10A-Er-Src	breast:	n/a	chr2:169708451-169708462
21	TBP	chr2:169708194-169708748	K562	blood:	n/a	n/a
22	NFYA	chr2:169708097-169708698	K562	blood:	n/a	n/a
23	JUN	chr2:169708178-169708890	K562	blood:	n/a	n/a
24	JUND	chr2:169708171-169709250	K562	blood:	n/a	chr2:169709239-169709248
25	ZMIZ1	chr2:169708191-169708800	K562	blood:	n/a	n/a
26	POLR2A	chr2:169708053-169708914	K562	blood:	n/a	n/a
27	MYC	chr2:169708112-169708832	K562	blood:	n/a	chr2:169708216-169708225 chr2:169708215-169708226 chr2:169708215-169708226 chr2:169708216-169708225 chr2:169708214-169708227 chr2:169708211-169708230 chr2:169708215-169708225
28	POLR2A	chr2:169708185-169708851	K562	blood:	n/a	n/a
29	TBL1XR1	chr2:169708219-169709266	K562	blood:	n/a	n/a
30	RFX5	chr2:169708132-169708463	K562	blood:	n/a	n/a
31	GATA2	chr2:169708072-169708956	K562	blood:	n/a	n/a
32	POLR2A	chr2:169708093-169708839	K562	blood:	n/a	n/a
33	PML	chr2:169707995-169708906	K562	blood:	n/a	n/a
34	ZC3H11A	chr2:169708162-169708834	K562	blood:	n/a	n/a
35	TBL1XR1	chr2:169708059-169708946	K562	blood:	n/a	n/a
36	TAL1	chr2:169708109-169708934	K562	blood:	n/a	n/a
37	MAZ	chr2:169708217-169708921	K562	blood:	n/a	n/a
38	TCF12	chr2:169708046-169708836	SK-N-SH	brain:	n/a	n/a
39	BHLHE40	chr2:169708173-169708867	K562	blood:	n/a	n/a
40	FOSL2	chr2:169708145-169708750	SK-N-SH	brain:	n/a	n/a
41	PBX3	chr2:169708069-169708760	SK-N-SH	brain:	n/a	n/a
42	CBX3	chr2:169708046-169708957	K562	blood:	n/a	n/a
43	CREB1	chr2:169708017-169709384	K562	blood:	n/a	n/a
44	ELF1	chr2:169708212-169708610	K562	blood:	n/a	n/a
45	MYC	chr2:169708098-169708900	K562	blood:	n/a	chr2:169708216-169708225 chr2:169708215-169708226 chr2:169708215-169708226 chr2:169708216-169708225 chr2:169708214-169708227 chr2:169708211-169708230 chr2:169708215-169708225
46	NR2F2	chr2:169707930-169709349	K562	blood:	n/a	n/a
47	PML	chr2:169707917-169709012	K562	blood:	n/a	n/a
48	NR2F2	chr2:169708143-169709294	K562	blood:	n/a	n/a
49	HDAC2	chr2:169708209-169708847	K562	blood:	n/a	n/a
50	MYC	chr2:169708157-169708934	K562	blood:	n/a	chr2:169708216-169708225 chr2:169708215-169708226 chr2:169708215-169708226 chr2:169708216-169708225 chr2:169708214-169708227 chr2:169708211-169708230 chr2:169708215-169708225

No.	Distal block	Cell Line	Cell type
1	chr2:169708194..169710093-chr2:169710266..169712297,2	K562	blood:
2	chr2:169702428..169704516-chr2:169706998..169708601,2	K562	blood:
3	chr2:169700277..169703960-chr2:169704282..169708601,6	K562	blood:

Variant related genes	Relation type
NOSTRIN	TF binding region
ENSG00000163072	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11900587	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13402324	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16856039	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16856043	0.94[YRI][hapmap];0.83[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	nsv583599	chr2:169664227-169903096	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv875381	chr2:169686559-169749841	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169676600-169709600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:169683400-169717600	Weak transcription	Ovary	ovary
3	chr2:169688000-169710600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:169689000-169721800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:169692000-169708400	Weak transcription	Colonic Mucosa	Colon
6	chr2:169693200-169708400	Weak transcription	Placenta	Placenta
7	chr2:169693400-169721400	Weak transcription	Spleen	Spleen
8	chr2:169693600-169711200	Weak transcription	Lung	lung
9	chr2:169693600-169721400	Weak transcription	Right Ventricle	heart
10	chr2:169698400-169713000	Weak transcription	Fetal Heart	heart
11	chr2:169698400-169721200	Weak transcription	Stomach Mucosa	stomach
12	chr2:169698600-169744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:169702200-169721200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:169702200-169733000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:169702600-169721400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:169703200-169713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:169703600-169714600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:169703600-169721200	Weak transcription	GM12878-XiMat	blood
19	chr2:169704200-169723400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:169704600-169721400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:169704800-169709800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:169705000-169721000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:169705000-169723600	Weak transcription	Fetal Brain Female	brain
24	chr2:169705200-169711400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:169705200-169721400	Weak transcription	Fetal Kidney	kidney
26	chr2:169706000-169709000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:169706000-169719000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:169706200-169717600	Weak transcription	Pancreas	Pancrea
29	chr2:169706400-169711200	Weak transcription	NH-A	brain
30	chr2:169706400-169713000	Weak transcription	Psoas Muscle	Psoas
31	chr2:169706600-169713200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:169706600-169721600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:169706600-169727800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:169706800-169711600	Strong transcription	Fetal Thymus	thymus
35	chr2:169706800-169713400	Strong transcription	Fetal Intestine Large	intestine
36	chr2:169706800-169718400	Weak transcription	Liver	Liver
37	chr2:169707000-169709600	Weak transcription	HepG2	liver
38	chr2:169707000-169711600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr2:169707000-169721000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:169707200-169712000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:169707200-169714800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:169707400-169710200	Strong transcription	Adipose Nuclei	Adipose
43	chr2:169707400-169713400	Strong transcription	Dnd41	blood
44	chr2:169707400-169722000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:169707600-169708800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:169707600-169708800	Strong transcription	Gastric	stomach
47	chr2:169707600-169709400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:169707800-169708400	Weak transcription	Left Ventricle	heart
49	chr2:169708000-169708600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:169708000-169708800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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