Variant report

Variant	rs10048031
Chromosome Location	chr15:31685403-31685404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr15:31685292-31686016	NB4	blood:	n/a	n/a
2	CTCF	chr15:31685360-31685510	GM12874	blood:	n/a	n/a
3	CTCF	chr15:31685340-31685490	GM12867	blood:	n/a	n/a
4	CTCF	chr15:31685320-31685470	RPTEC	kidney:	n/a	n/a
5	CTCF	chr15:31685402-31685484	GM19240	blood:	n/a	n/a
6	ELF1	chr15:31684305-31685582	GM12878	blood:	n/a	chr15:31685468-31685480
7	CTCF	chr15:31685380-31685530	GM12866	blood:	n/a	n/a
8	CTCF	chr15:31685360-31685510	GM12875	blood:	n/a	n/a
9	CTCF	chr15:31685340-31685490	HCM	heart:	n/a	n/a
10	CTCF	chr15:31685280-31685430	GM12865	blood:	n/a	n/a
11	CTCF	chr15:31685320-31685470	GM12878	blood:	n/a	n/a
12	CTCF	chr15:31685280-31685430	GM12864	blood:	n/a	n/a
13	CTCF	chr15:31685340-31685490	GM12872	blood:	n/a	n/a
14	SIN3A	chr15:31685159-31685592	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr15:31685274-31685506	GM12878	blood:	n/a	n/a
16	CTCF	chr15:31685360-31685510	GM12867	blood:	n/a	n/a
17	CTCF	chr15:31685340-31685490	GM12871	blood:	n/a	n/a
18	CTCF	chr15:31685340-31685490	HCPEpiC	choroid plexus:	n/a	n/a
19	MAZ	chr15:31685386-31685424	GM12878	blood:	n/a	n/a
20	CTCF	chr15:31685340-31685490	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr15:31685400-31685550	GM12865	blood:	n/a	n/a
22	CTCF	chr15:31685320-31685470	GM12872	blood:	n/a	n/a
23	BACH1	chr15:31685217-31685417	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr15:31684361-31685446	GM18505	blood:	n/a	n/a
25	CTCF	chr15:31685341-31685491	GM12892	blood:	n/a	n/a
26	CTCF	chr15:31685380-31685530	GM12865	blood:	n/a	n/a
27	CTCF	chr15:31685400-31685550	GM12873	blood:	n/a	n/a
28	CTCF	chr15:31685320-31685470	HepG2	liver:	n/a	n/a
29	CTCF	chr15:31685320-31685470	AG04449	skin:	n/a	n/a
30	CTCF	chr15:31685380-31685530	GM12869	blood:	n/a	n/a
31	CTCF	chr15:31685300-31685450	GM12874	blood:	n/a	n/a
32	CTCF	chr15:31685345-31685477	GM19238	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:31616992..31619470-chr15:31682984..31685911,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAN1-2	chr15:31685046-31685458	ENSG00000246638
2	lnc-FAN1-2	chr15:31685046-31685458	XLOC_011202
3	lnc-FAN1-2	chr15:31685046-31685458	XLOC_011202
4	lnc-FAN1-2	chr15:31685046-31685458	NONHSAT140225

No data

Variant related genes	Relation type
KLF13	TF binding region
ENSG00000169926	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10152853	0.91[ASN][1000 genomes]
rs12148909	0.91[ASN][1000 genomes]
rs12442724	0.88[ASN][1000 genomes]
rs4779522	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8042543	0.91[ASN][1000 genomes]
rs9630424	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903831	chr15:30986051-31723279	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1054147	chr15:31014507-31972706	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542306	chr15:31014507-31972706	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv932896	chr15:31292475-31730445	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	esv1815415	chr15:31483843-31697213	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases
6	esv34100	chr15:31496514-31792591	Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv903840	chr15:31589970-31800149	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv903841	chr15:31616674-31697242	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv903842	chr15:31621321-31697242	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv456748	chr15:31621321-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv568801	chr15:31621321-31697642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv1810782	chr15:31633161-31697642	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv903843	chr15:31672947-31723279	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31683800-31685600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr15:31683800-31685600	Active TSS	Sigmoid Colon	Sigmoid Colon
3	chr15:31683800-31685800	Active TSS	Fetal Intestine Small	intestine
4	chr15:31684000-31685600	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr15:31684000-31685600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr15:31684000-31685600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:31684000-31685600	Active TSS	Colon Smooth Muscle	Colon
8	chr15:31684000-31685600	Active TSS	Duodenum Mucosa	Duodenum
9	chr15:31684000-31685600	Active TSS	Stomach Smooth Muscle	stomach
10	chr15:31684000-31685600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr15:31684000-31685800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr15:31684000-31685800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr15:31684000-31685800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr15:31684000-31685800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr15:31684000-31685800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr15:31684000-31685800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr15:31684000-31685800	Active TSS	Primary T cells from cord blood	blood
18	chr15:31684000-31685800	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr15:31684000-31685800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr15:31684000-31685800	Active TSS	Gastric	stomach
21	chr15:31684000-31685800	Active TSS	Pancreas	Pancrea
22	chr15:31684000-31686000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr15:31684000-31686000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr15:31684000-31686000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:31684000-31686000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:31684000-31686000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:31684000-31686000	Active TSS	Rectal Smooth Muscle	rectum
28	chr15:31684000-31686200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr15:31684200-31685600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:31684200-31685600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr15:31684200-31685600	Active TSS	Brain Anterior Caudate	brain
32	chr15:31684200-31685600	Active TSS	Spleen	Spleen
33	chr15:31684200-31686000	Active TSS	GM12878-XiMat	blood
34	chr15:31684600-31685600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:31684600-31685800	Active TSS	Thymus	Thymus
36	chr15:31684600-31686000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr15:31684800-31685600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:31684800-31685600	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr15:31684800-31685800	Flanking Active TSS	Fetal Thymus	thymus
40	chr15:31684800-31686000	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr15:31684800-31688800	Weak transcription	Fetal Heart	heart
42	chr15:31685000-31685600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
43	chr15:31685000-31685600	Flanking Active TSS	Colonic Mucosa	Colon
44	chr15:31685000-31686000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr15:31685000-31688000	Weak transcription	A549	lung
46	chr15:31685000-31688000	Weak transcription	Hela-S3	cervix
47	chr15:31685000-31688800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:31685000-31689600	Weak transcription	HSMM	muscle
49	chr15:31685200-31685600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr15:31685200-31685600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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