Variant report

Variant	rs71474659
Chromosome Location	chr15:31685164-31685165
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
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	ELF1	chr15:31684305-31685582	GM12878	blood:	n/a	chr15:31685468-31685480
2	POLR2A	chr15:31685037-31685281	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:31685037-31685207	GM12878	blood:	n/a	n/a
4	SIN3A	chr15:31685159-31685592	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:31684327-31685226	GM15510	blood:	n/a	n/a
6	CTCF	chr15:31685151-31685205	GM12892	blood:	n/a	n/a
7	CTCF	chr15:31685160-31685310	GM12864	blood:	n/a	n/a
8	CTCF	chr15:31685160-31685310	GM12873	blood:	n/a	n/a
9	POLR2A	chr15:31684361-31685446	GM18505	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:31685131-31685181	AG09319	gingival:	n/a
2	chr15:31685131-31685181	A549	lung:	n/a
3	chr15:31685131-31685181	H1-hESC	embryonic stem cell:	embryo
4	chr15:31685131-31685181	CMK	blood:	n/a
5	chr15:31685131-31685181	PANC-1	pancreas:	n/a
6	chr15:31685131-31685181	BE2_C	brain:	n/a
7	chr15:31685131-31685181	HCPEpiC	choroid plexus:	n/a
8	chr15:31685131-31685181	GM06990	blood:	n/a
9	chr15:31685131-31685181	HNPCEpiC	eye:	n/a
10	chr15:31685131-31685181	AG09309	skin:	n/a
11	chr15:31685131-31685181	NHBE	bronchial:	n/a
12	chr15:31685131-31685181	SK-N-SH	brain:	n/a
13	chr15:31685131-31685181	U87	brain:	n/a
14	chr15:31685131-31685181	T-47D	breast:	n/a
15	chr15:31685131-31685181	MCF10A-Er-Src	breast:	n/a
16	chr15:31685131-31685181	HAEpiC	amniotic membrane:	n/a
17	chr15:31685131-31685181	NB4	blood:	n/a
18	chr15:31685131-31685181	SKMC	muscle:	n/a
19	chr15:31685131-31685181	RPTEC	kidney:	n/a
20	chr15:31685131-31685181	SK-N-MC	brain:	n/a
21	chr15:31685131-31685181	Hepatocyte	liver:	n/a
22	chr15:31685131-31685181	GM12878	blood:	n/a
23	chr15:31685131-31685181	HEK293	kidney:	embryo
24	chr15:31685131-31685181	GM12891	blood:	n/a
25	chr15:31685131-31685181	IMR90	lung:	fetal
26	chr15:31685131-31685181	ProgFib	skin:	n/a
27	chr15:31685131-31685181	HPAEpiC	pulmonary alveolar:	n/a
28	chr15:31685131-31685181	ECC-1	luminal epithelium:	n/a
29	chr15:31685131-31685181	NHDF-neo	bronchial:	n/a
30	chr15:31685131-31685181	SAEC	small airway:	n/a
31	chr15:31685131-31685181	NT2-D1	testis:	n/a
32	chr15:31685131-31685181	SK-N-SH_RA	brain:	n/a
33	chr15:31685131-31685181	HCF	heart:	n/a
34	chr15:31685131-31685181	NH-A	brain:	n/a
35	chr15:31685131-31685181	HCM	heart:	n/a
36	chr15:31685131-31685181	GM12892	blood:	n/a
37	chr15:31685131-31685181	AoSMC	blood vessel:	n/a
38	chr15:31685131-31685181	GM19239	blood:	n/a
39	chr15:31685131-31685181	AG04450	lung:	fetal
40	chr15:31685131-31685181	MCF-7	breast:	n/a
41	chr15:31685131-31685181	HCT-116	colon:	n/a
42	chr15:31685131-31685181	HMEC	breast:	n/a
43	chr15:31685131-31685181	ovcar-3	ovarian:	n/a
44	chr15:31685131-31685181	BJ	skin:	n/a
45	chr15:31685131-31685181	HUVEC	blood vessel:	n/a
46	chr15:31685131-31685181	Hela-S3	cervix:	n/a
47	chr15:31685131-31685181	AG04449	skin:	fetal
48	chr15:31685131-31685181	K562	blood:	n/a
49	chr15:31685131-31685181	LNCaP	prostate:	n/a
50	chr15:31685131-31685181	Caco-2	colon:	n/a

(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
KLF13	CpG island
ENSG00000169926	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs34056696	1.00[EUR][1000 genomes]
rs34331965	0.84[EUR][1000 genomes]
rs34682798	1.00[EUR][1000 genomes]
rs35799005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71474660	0.96[EUR][1000 genomes]
rs7172678	0.96[EUR][1000 genomes]
rs753636	1.00[EUR][1000 genomes]
rs8035636	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
14	esv3423388	chr15:31682185-31685233	Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 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	chr15:31683600-31685200	Active TSS	Right Ventricle	heart
3	chr15:31683600-31685400	Active TSS	NHEK	skin
4	chr15:31683800-31685200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr15:31683800-31685200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:31683800-31685200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:31683800-31685200	Active TSS	Fetal Intestine Large	intestine
8	chr15:31683800-31685200	Active TSS	Left Ventricle	heart
9	chr15:31683800-31685200	Active TSS	Psoas Muscle	Psoas
10	chr15:31683800-31685400	Active TSS	Aorta	Aorta
11	chr15:31683800-31685400	Active TSS	Ovary	ovary
12	chr15:31683800-31685400	Active TSS	Right Atrium	heart
13	chr15:31683800-31685400	Active TSS	Small Intestine	intestine
14	chr15:31683800-31685600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr15:31683800-31685600	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr15:31683800-31685800	Active TSS	Fetal Intestine Small	intestine
17	chr15:31684000-31685200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:31684000-31685200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr15:31684000-31685200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:31684000-31685200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:31684000-31685200	Active TSS	Brain Angular Gyrus	brain
22	chr15:31684000-31685200	Active TSS	Esophagus	oesophagus
23	chr15:31684000-31685400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr15:31684000-31685400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:31684000-31685400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:31684000-31685400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr15:31684000-31685400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:31684000-31685400	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr15:31684000-31685400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:31684000-31685400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:31684000-31685400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:31684000-31685400	Active TSS	Brain Cingulate Gyrus	brain
33	chr15:31684000-31685400	Active TSS	Brain Hippocampus Middle	brain
34	chr15:31684000-31685400	Active TSS	Brain Substantia Nigra	brain
35	chr15:31684000-31685400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr15:31684000-31685400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr15:31684000-31685400	Active TSS	Fetal Kidney	kidney
38	chr15:31684000-31685400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr15:31684000-31685400	Active TSS	Lung	lung
40	chr15:31684000-31685400	Active TSS	NHDF-Ad	bronchial
41	chr15:31684000-31685400	Active TSS	Osteobl	bone
42	chr15:31684000-31685600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr15:31684000-31685600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr15:31684000-31685600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:31684000-31685600	Active TSS	Colon Smooth Muscle	Colon
46	chr15:31684000-31685600	Active TSS	Duodenum Mucosa	Duodenum
47	chr15:31684000-31685600	Active TSS	Stomach Smooth Muscle	stomach
48	chr15:31684000-31685600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr15:31684000-31685800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr15:31684000-31685800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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