Variant report

Variant	rs7588777
Chromosome Location	chr2:30371358-30371359
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	MAX	chr2:30370405-30371420	NB4	blood:	n/a	n/a
2	POLR2A	chr2:30371015-30371424	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:30369043-30371412	GM12878	blood:	n/a	n/a
4	CTCF	chr2:30370195-30371747	A549	lung:	n/a	chr2:30370307-30370320 chr2:30370308-30370318
5	POLR2A	chr2:30368576-30371359	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr2:30371214-30371405	K562	blood:	n/a	n/a
7	IKZF1	chr2:30370940-30371916	GM12878	blood:	n/a	n/a
8	SPI1	chr2:30371174-30371403	GM12891	blood:	n/a	n/a
9	POU2F2	chr2:30371116-30371398	GM12891	blood:	n/a	n/a
10	EBF1	chr2:30371205-30371438	GM12878	blood:	n/a	n/a
11	MXI1	chr2:30370350-30371439	GM12878	blood:	n/a	n/a
12	TBL1XR1	chr2:30370609-30371401	GM12878	blood:	n/a	n/a
13	TEAD4	chr2:30370785-30371473	K562	blood:	n/a	n/a
14	POLR2A	chr2:30370322-30371418	H1-hESC	embryonic stem cell:	n/a	n/a
15	EP300	chr2:30371044-30371744	K562	blood:	n/a	chr2:30371618-30371628
16	SPI1	chr2:30371151-30371541	HL-60	blood:	n/a	n/a
17	NFIC	chr2:30370856-30371537	GM12878	blood:	n/a	n/a
18	MAX	chr2:30371175-30371375	H1-hESC	embryonic stem cell:	n/a	n/a
19	MEF2A	chr2:30370983-30371595	GM12878	blood:	n/a	chr2:30371083-30371094 chr2:30371080-30371096 chr2:30371082-30371097 chr2:30371081-30371096
20	MXI1	chr2:30368627-30371538	IMR90	lung:	n/a	n/a
21	MXI1	chr2:30368738-30371599	SK-N-SH	brain:	n/a	n/a
22	TEAD4	chr2:30371085-30371440	H1-hESC	embryonic stem cell:	n/a	n/a
23	WRNIP1	chr2:30371176-30371376	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:30371036-30371482	HL-60	blood:	n/a	n/a
25	ZC3H11A	chr2:30370663-30371361	K562	blood:	n/a	n/a
26	CHD1	chr2:30368604-30371625	IMR90	lung:	n/a	chr2:30369572-30369582 chr2:30369567-30369577
27	POLR2A	chr2:30370599-30371456	PBDE	blood:	n/a	n/a
28	POLR2A	chr2:30370314-30373224	K562	blood:	n/a	n/a
29	RUNX3	chr2:30371029-30371525	GM12878	blood:	n/a	n/a
30	RUNX3	chr2:30371069-30371447	GM12878	blood:	n/a	n/a
31	TEAD4	chr2:30371113-30371396	H1-hESC	embryonic stem cell:	n/a	n/a
32	SIN3A	chr2:30368914-30371389	H1-hESC	embryonic stem cell:	n/a	chr2:30368966-30368974 chr2:30369701-30369714 chr2:30369548-30369562

No.	Distal block	Cell Line	Cell type
1	chr2:30362220..30364424-chr2:30369262..30372123,2	K562	blood:
2	chr2:30370673..30372393-chr2:30454162..30455838,3	K562	blood:
3	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
4	chr2:30370893..30374119-chr2:30453845..30456707,3	K562	blood:
5	chr2:30369470..30372362-chr2:30669050..30670728,2	MCF-7	breast:
6	chr2:30369876..30376242-chr2:30376921..30381158,8	K562	blood:

Variant related genes	Relation type
ENSG00000233862	TF binding region
ENSG00000213626	Chromatin interaction
ENSG00000119801	Chromatin interaction
ENSG00000172954	Chromatin interaction
ENSG00000233862	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10179096	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947144	0.85[EUR][1000 genomes]
rs4245768	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709171	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309677	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3373211	chr2:30368973-30372021	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3346985	chr2:30369298-30371696	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30369000-30371400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:30369000-30371400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:30369000-30371400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:30369000-30371400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:30369000-30371400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:30369000-30371400	Active TSS	Right Atrium	heart
7	chr2:30369000-30371400	Active TSS	Right Ventricle	heart
8	chr2:30369000-30371600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:30369000-30371600	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:30369000-30372800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr2:30369200-30371400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:30369200-30371400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:30369200-30371400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:30369200-30371400	Active TSS	Esophagus	oesophagus
15	chr2:30369200-30371400	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:30369200-30371400	Active TSS	NHDF-Ad	bronchial
17	chr2:30369200-30371800	Active TSS	Gastric	stomach
18	chr2:30369400-30371400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr2:30369400-30371400	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:30369400-30371400	Active TSS	Fetal Muscle Trunk	muscle
21	chr2:30369400-30371800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:30369800-30371600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
23	chr2:30370800-30371400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:30370800-30371400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:30370800-30371400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:30370800-30371400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr2:30370800-30371400	Flanking Active TSS	Liver	Liver
28	chr2:30370800-30371400	Flanking Active TSS	Fetal Brain Male	brain
29	chr2:30370800-30371400	Flanking Active TSS	Fetal Thymus	thymus
30	chr2:30370800-30371400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr2:30370800-30371400	Flanking Active TSS	Hela-S3	cervix
32	chr2:30370800-30371400	Flanking Active TSS	K562	blood
33	chr2:30370800-30371600	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr2:30370800-30371600	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr2:30370800-30371600	Flanking Active TSS	HUVEC	blood vessel
36	chr2:30370800-30371800	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr2:30370800-30371800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:30370800-30371800	Flanking Active TSS	Fetal Brain Female	brain
39	chr2:30370800-30372000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr2:30370800-30372000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr2:30371000-30371400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:30371000-30371400	Flanking Active TSS	Primary B cells from peripheral blood	blood
43	chr2:30371000-30371400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:30371000-30371400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:30371000-30371400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:30371000-30371400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr2:30371000-30371400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:30371000-30371400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr2:30371000-30371400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:30371000-30371400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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