Variant report

Variant	rs60337023
Chromosome Location	chr2:86120978-86120979
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:86120467-86121655	A549	lung:	n/a	chr2:86121155-86121162 chr2:86120857-86120873
2	SP1	chr2:86120478-86121646	A549	lung:	n/a	n/a
3	FOSL2	chr2:86120785-86121456	SK-N-SH	brain:	n/a	n/a
4	ETS1	chr2:86120816-86121471	A549	lung:	n/a	chr2:86120842-86120849
5	TCF12	chr2:86120669-86121476	SK-N-SH	brain:	n/a	n/a
6	FOSL2	chr2:86120489-86121644	A549	lung:	n/a	n/a
7	REST	chr2:86120941-86121276	PFSK-1	brain:	n/a	n/a
8	SIN3AK20	chr2:86120652-86121341	A549	lung:	n/a	n/a
9	SIN3AK20	chr2:86120698-86121547	A549	lung:	n/a	n/a
10	BCL3	chr2:86120502-86121571	A549	lung:	n/a	n/a
11	TEAD4	chr2:86120726-86121571	SK-N-SH	brain:	n/a	n/a
12	JUND	chr2:86120773-86121418	A549	lung:	n/a	n/a
13	GATA3	chr2:86120669-86121563	SK-N-SH	brain:	n/a	n/a
14	EP300	chr2:86120806-86121576	SK-N-SH	brain:	n/a	chr2:86121155-86121162 chr2:86120857-86120873
15	TCF12	chr2:86120653-86121522	A549	lung:	n/a	n/a
16	NFIC	chr2:86120690-86121573	SK-N-SH	brain:	n/a	n/a
17	NR3C1	chr2:86120668-86121442	A549	lung:	n/a	n/a
18	TCF12	chr2:86120384-86121751	A549	lung:	n/a	n/a
19	CREB1	chr2:86120939-86121097	A549	lung:	n/a	n/a
20	GATA3	chr2:86120788-86121553	SK-N-SH	brain:	n/a	n/a
21	CEBPB	chr2:86120885-86121475	A549	lung:	n/a	n/a
22	REST	chr2:86120909-86121254	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr2:86120760-86121411	HUVEC	blood vessel:	n/a	n/a
24	FOSL2	chr2:86120769-86121452	A549	lung:	n/a	n/a
25	PBX3	chr2:86120736-86121582	SK-N-SH	brain:	n/a	chr2:86121298-86121307
26	GATA3	chr2:86120415-86121743	A549	lung:	n/a	n/a
27	GATA3	chr2:86120575-86121484	A549	lung:	n/a	n/a
28	E2F6	chr2:86120609-86121209	A549	lung:	n/a	n/a
29	E2F6	chr2:86120452-86121464	A549	lung:	n/a	n/a
30	JUND	chr2:86120652-86121325	A549	lung:	n/a	n/a
31	CEBPB	chr2:86120904-86121424	A549	lung:	n/a	n/a
32	POLR2A	chr2:86120852-86121286	U87	brain:	n/a	n/a
33	SP1	chr2:86120559-86121770	A549	lung:	n/a	n/a
34	TEAD4	chr2:86120787-86121534	A549	lung:	n/a	n/a
35	TEAD4	chr2:86120635-86121465	A549	lung:	n/a	n/a
36	PBX3	chr2:86120728-86121482	SK-N-SH	brain:	n/a	chr2:86121298-86121307
37	REST	chr2:86120541-86121600	A549	lung:	n/a	n/a
38	MAX	chr2:86120543-86121570	A549	lung:	n/a	n/a
39	POLR2A	chr2:86118029-86121960	K562	blood:	n/a	n/a
40	POLR2A	chr2:86120829-86121422	SK-N-SH	brain:	n/a	n/a
41	NR3C1	chr2:86120682-86121468	A549	lung:	n/a	n/a
42	MAX	chr2:86120852-86121415	SK-N-SH	brain:	n/a	n/a
43	FOS	chr2:86120949-86121460	MCF10A-Er-Src	breast:	n/a	n/a
44	FOXP2	chr2:86120882-86121124	PFSK-1	brain:	n/a	n/a
45	EP300	chr2:86120707-86121524	SK-N-SH	brain:	n/a	chr2:86121155-86121162 chr2:86120857-86120873
46	CEBPB	chr2:86120593-86121625	A549	lung:	n/a	n/a
47	MAX	chr2:86120915-86121399	SK-N-SH	brain:	n/a	n/a
48	FOXA2	chr2:86120633-86121609	A549	lung:	n/a	chr2:86121131-86121143
49	TCF12	chr2:86120638-86121658	SK-N-SH	brain:	n/a	n/a
50	MYC	chr2:86120971-86121367	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86114878..86116961-chr2:86120705..86124277,3	MCF-7	breast:
2	chr2:86115047..86116757-chr2:86119715..86122326,2	MCF-7	breast:
3	chr2:86119682..86121677-chr2:86130359..86133618,3	MCF-7	breast:
4	chr2:86119817..86123713-chr2:86130856..86134451,3	K562	blood:
5	chr2:86115287..86117593-chr2:86119234..86121215,2	K562	blood:
6	chr2:86115287..86118043-chr2:86119453..86121215,2	K562	blood:

No data

Variant related genes	Relation type
ST3GAL5	TF binding region
ENSG00000272564	Chromatin interaction
ENSG00000232504	Chromatin interaction
ENSG00000115525	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1158729	0.80[EUR][1000 genomes]
rs11678865	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17026728	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2280314	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2280315	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2438307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2577776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3770093	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55656327	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59968392	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6547635	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73943777	0.82[EUR][1000 genomes]

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86117400-86126400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:86118000-86121600	Enhancers	Fetal Muscle Leg	muscle
3	chr2:86118200-86121000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:86118200-86122200	Weak transcription	Primary B cells from cord blood	blood
5	chr2:86118200-86126000	Weak transcription	Primary T cells from cord blood	blood
6	chr2:86118200-86126800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:86118400-86126600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:86118400-86127600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:86118600-86131000	Weak transcription	Thymus	Thymus
10	chr2:86118800-86121600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:86118800-86122400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:86119200-86121600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:86119200-86122000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:86119400-86121000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:86119400-86121200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:86119400-86121200	Enhancers	Fetal Lung	lung
17	chr2:86119400-86121200	Enhancers	Fetal Thymus	thymus
18	chr2:86119400-86121600	Enhancers	Dnd41	blood
19	chr2:86119400-86122000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:86119400-86122200	Enhancers	HMEC	breast
21	chr2:86119600-86121600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:86119600-86121600	Enhancers	Adipose Nuclei	Adipose
23	chr2:86119600-86121800	Enhancers	HSMM	muscle
24	chr2:86119600-86122000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:86119600-86122000	Flanking Active TSS	A549	lung
26	chr2:86119800-86121400	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr2:86119800-86121800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:86119800-86121800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:86119800-86122000	Enhancers	Osteobl	bone
30	chr2:86119800-86132200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:86120000-86121000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:86120000-86126600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:86120200-86122000	Enhancers	NHDF-Ad	bronchial
34	chr2:86120200-86134200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr2:86120400-86121000	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr2:86120400-86121000	Enhancers	Left Ventricle	heart
37	chr2:86120400-86121000	Enhancers	Ovary	ovary
38	chr2:86120400-86121200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:86120400-86121200	Enhancers	Lung	lung
40	chr2:86120400-86121800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:86120600-86121000	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr2:86120600-86121000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr2:86120600-86121000	Flanking Active TSS	NHEK	skin
44	chr2:86120600-86121200	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:86120600-86121200	Enhancers	NHLF	lung
46	chr2:86120600-86121400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:86120600-86121400	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr2:86120600-86121600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:86120600-86121600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:86120600-86121600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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