Variant report

Variant	rs2431349
Chromosome Location	chr5:75921330-75921331
allele	A/C
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	NR2F2	chr5:75921289-75921597	K562	blood:	n/a	n/a
2	CEBPD	chr5:75921323-75921764	K562	blood:	n/a	n/a
3	POLR2A	chr5:75921301-75921670	K562	blood:	n/a	n/a
4	UBTF	chr5:75921307-75921572	K562	blood:	n/a	n/a
5	CEBPD	chr5:75921215-75921671	K562	blood:	n/a	n/a
6	SPI1	chr5:75921227-75921435	K562	blood:	n/a	chr5:75921290-75921303
7	TEAD4	chr5:75921198-75921723	K562	blood:	n/a	n/a
8	TBL1XR1	chr5:75921300-75921604	K562	blood:	n/a	n/a
9	RCOR1	chr5:75921251-75921676	K562	blood:	n/a	n/a
10	UBTF	chr5:75921294-75921485	K562	blood:	n/a	n/a
11	POLR2A	chr5:75921297-75921626	K562	blood:	n/a	n/a
12	EP300	chr5:75921296-75921714	K562	blood:	n/a	n/a
13	ELF1	chr5:75921211-75921503	K562	blood:	n/a	chr5:75921307-75921320
14	REST	chr5:75921247-75921607	K562	blood:	n/a	chr5:75921573-75921586
15	TAL1	chr5:75921287-75921683	K562	blood:	n/a	n/a
16	GATA2	chr5:75921227-75921713	K562	blood:	n/a	n/a
17	TEAD4	chr5:75921198-75921742	K562	blood:	n/a	n/a
18	GATA2	chr5:75921271-75921690	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
F2RL2	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10035308	0.90[CHB][hapmap];0.80[JPT][hapmap];0.85[ASN][1000 genomes]
rs10037254	0.82[ASN][1000 genomes]
rs10042932	0.82[ASN][1000 genomes]
rs1697844	0.82[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1697845	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2069641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2431350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2431351	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2431353	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2431354	0.90[ASN][1000 genomes]
rs2431355	0.80[ASN][1000 genomes]
rs2431357	0.80[ASN][1000 genomes]
rs2431360	0.85[ASN][1000 genomes]
rs2432180	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2432192	0.85[ASN][1000 genomes]
rs2455219	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2455221	0.91[ASN][1000 genomes]
rs2455222	0.85[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs2455223	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2455224	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs2455225	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2455227	0.82[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2455228	0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs2455230	0.82[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs2455231	0.84[ASN][1000 genomes]
rs2909889	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2909890	0.84[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2909891	0.85[ASN][1000 genomes]
rs2910819	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs2937415	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs372390	0.87[ASN][1000 genomes]
rs3756521	0.81[EUR][1000 genomes]
rs395661	0.85[ASN][1000 genomes]
rs410262	0.81[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs416451	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs428121	0.81[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs429071	0.86[ASN][1000 genomes]
rs431160	0.86[ASN][1000 genomes]
rs441157	0.82[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs457233	0.84[CEU][hapmap];0.91[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs457717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs465959	0.90[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1031881	chr5:75917033-75946265	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75879000-75934000	Weak transcription	Small Intestine	intestine
2	chr5:75880200-75933400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
4	chr5:75903800-75936200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:75903800-75943600	Weak transcription	Spleen	Spleen
6	chr5:75907600-75923000	Weak transcription	Placenta	Placenta
7	chr5:75907800-75934600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:75908000-75928000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:75909000-75923200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:75909200-75923000	Weak transcription	Lung	lung
11	chr5:75911200-75923000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:75913400-75934600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:75914000-75921800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr5:75914200-75953800	Weak transcription	Colonic Mucosa	Colon
15	chr5:75914400-75922600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:75914400-75922600	Weak transcription	Gastric	stomach
17	chr5:75914400-75922800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:75914400-75932800	Weak transcription	HepG2	liver
19	chr5:75915000-75923000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr5:75915000-75923200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr5:75915000-75923400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:75916400-75921600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:75916800-75923200	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:75918000-75943400	Weak transcription	Fetal Intestine Small	intestine
25	chr5:75918200-75922600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:75918200-75943600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:75918400-75922200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:75918400-75927200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:75918400-75927800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr5:75919000-75923200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:75919200-75922600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr5:75919200-75923200	Weak transcription	Primary T cells from cord blood	blood
33	chr5:75919200-75926000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:75919200-75943600	Weak transcription	Fetal Intestine Large	intestine
35	chr5:75919200-75955400	Weak transcription	Fetal Kidney	kidney
36	chr5:75919400-75922600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:75919400-75928200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:75919400-75938200	Weak transcription	Pancreas	Pancrea
39	chr5:75919400-75944200	Weak transcription	Fetal Lung	lung
40	chr5:75919600-75921400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:75919600-75926000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:75920200-75923800	Weak transcription	Primary B cells from cord blood	blood
43	chr5:75920400-75921400	Enhancers	Primary hematopoietic stem cells	blood
44	chr5:75920800-75921400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr5:75920800-75921600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:75920800-75921800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:75921000-75921600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:75921000-75921600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:75921000-75921800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:75921000-75921800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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