Variant report

Variant	rs7171667
Chromosome Location	chr15:31685249-31685250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:31685180-31685330	GM12871	blood:	n/a	n/a
2	ELF1	chr15:31684305-31685582	GM12878	blood:	n/a	chr15:31685468-31685480
3	POLR2A	chr15:31685037-31685281	GM12878	blood:	n/a	n/a
4	SIN3A	chr15:31685159-31685592	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr15:31685160-31685310	GM12864	blood:	n/a	n/a
6	BACH1	chr15:31685217-31685417	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr15:31685160-31685310	GM12873	blood:	n/a	n/a
8	POLR2A	chr15:31684361-31685446	GM18505	blood:	n/a	n/a
9	CTCF	chr15:31685240-31685390	GM12871	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: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10083664	0.88[ASN][1000 genomes]
rs10083682	0.88[ASN][1000 genomes]
rs10459614	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10851544	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10851545	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11630067	0.92[ASN][1000 genomes]
rs11630485	0.92[ASN][1000 genomes]
rs11631345	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11634484	0.88[ASN][1000 genomes]
rs11636300	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11638964	0.90[ASN][1000 genomes]
rs11639133	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12441543	0.96[ASN][1000 genomes]
rs12441765	0.92[ASN][1000 genomes]
rs12594811	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12899540	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12902234	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12910502	0.92[ASN][1000 genomes]
rs12912800	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34482222	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4346167	0.90[ASN][1000 genomes]
rs4558376	0.92[ASN][1000 genomes]
rs4606678	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4613031	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4779523	0.86[ASN][1000 genomes]
rs4779525	0.96[ASN][1000 genomes]
rs4779526	0.92[ASN][1000 genomes]
rs59970767	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6493652	0.92[ASN][1000 genomes]
rs7165900	0.91[ASN][1000 genomes]
rs7170922	0.90[ASN][1000 genomes]
rs7174902	0.91[ASN][1000 genomes]
rs7402977	0.88[ASN][1000 genomes]
rs7403010	0.88[ASN][1000 genomes]
rs7496920	0.88[ASN][1000 genomes]
rs8027155	0.85[ASN][1000 genomes]
rs8030771	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8035633	0.92[ASN][1000 genomes]
rs8042404	0.87[ASN][1000 genomes]
rs8043195	0.92[ASN][1000 genomes]
rs9744263	0.84[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:31683400-31685400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr15:31683600-31685400	Active TSS	NHEK	skin
3	chr15:31683800-31685400	Active TSS	Aorta	Aorta
4	chr15:31683800-31685400	Active TSS	Ovary	ovary
5	chr15:31683800-31685400	Active TSS	Right Atrium	heart
6	chr15:31683800-31685400	Active TSS	Small Intestine	intestine
7	chr15:31683800-31685600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr15:31683800-31685600	Active TSS	Sigmoid Colon	Sigmoid Colon
9	chr15:31683800-31685800	Active TSS	Fetal Intestine Small	intestine
10	chr15:31684000-31685400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr15:31684000-31685400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:31684000-31685400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:31684000-31685400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr15:31684000-31685400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr15:31684000-31685400	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr15:31684000-31685400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:31684000-31685400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:31684000-31685400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:31684000-31685400	Active TSS	Brain Cingulate Gyrus	brain
20	chr15:31684000-31685400	Active TSS	Brain Hippocampus Middle	brain
21	chr15:31684000-31685400	Active TSS	Brain Substantia Nigra	brain
22	chr15:31684000-31685400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr15:31684000-31685400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr15:31684000-31685400	Active TSS	Fetal Kidney	kidney
25	chr15:31684000-31685400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr15:31684000-31685400	Active TSS	Lung	lung
27	chr15:31684000-31685400	Active TSS	NHDF-Ad	bronchial
28	chr15:31684000-31685400	Active TSS	Osteobl	bone
29	chr15:31684000-31685600	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr15:31684000-31685600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr15:31684000-31685600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:31684000-31685600	Active TSS	Colon Smooth Muscle	Colon
33	chr15:31684000-31685600	Active TSS	Duodenum Mucosa	Duodenum
34	chr15:31684000-31685600	Active TSS	Stomach Smooth Muscle	stomach
35	chr15:31684000-31685600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr15:31684000-31685800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr15:31684000-31685800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr15:31684000-31685800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr15:31684000-31685800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr15:31684000-31685800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr15:31684000-31685800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
42	chr15:31684000-31685800	Active TSS	Primary T cells from cord blood	blood
43	chr15:31684000-31685800	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr15:31684000-31685800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr15:31684000-31685800	Active TSS	Gastric	stomach
46	chr15:31684000-31685800	Active TSS	Pancreas	Pancrea
47	chr15:31684000-31686000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr15:31684000-31686000	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr15:31684000-31686000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr15:31684000-31686000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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