Variant report

Variant	rs73439281
Chromosome Location	chr15:75941226-75941227
allele	C/G
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	POLR2A	chr15:75939176-75942002	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:75939623-75941392	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAZ	chr15:75939005-75941749	IMR90	lung:	n/a	n/a
4	MXI1	chr15:75938376-75941832	IMR90	lung:	n/a	n/a
5	RFX5	chr15:75941212-75941298	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:75939069-75941427	U87	brain:	n/a	n/a
7	CTCF	chr15:75941160-75941310	AG10803	skin:	n/a	n/a
8	ZNF263	chr15:75938654-75941352	HEK293-T-REx	kidney:	n/a	chr15:75940904-75940913 chr15:75940221-75940230 chr15:75941175-75941184 chr15:75940645-75940654
9	MAX	chr15:75939382-75941256	Hela-S3	cervix:	n/a	n/a
10	CHD1	chr15:75938233-75943156	IMR90	lung:	n/a	chr15:75939691-75939701 chr15:75940679-75940689
11	RFX5	chr15:75939807-75941249	Hela-S3	cervix:	n/a	chr15:75940568-75940576
12	RAD21	chr15:75939506-75941228	IMR90	lung:	n/a	chr15:75940334-75940348 chr15:75940330-75940349 chr15:75939828-75939842
13	POLR2A	chr15:75938243-75942508	IMR90	lung:	n/a	n/a
14	SIN3A	chr15:75939339-75941269	H1-hESC	embryonic stem cell:	n/a	chr15:75940090-75940101
15	GTF2F1	chr15:75940179-75941323	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr15:75939050-75941378	HepG2	liver:	n/a	n/a
17	CTCF	chr15:75938313-75941384	A549	lung:	n/a	chr15:75940645-75940658 chr15:75940234-75940250 chr15:75940396-75940409 chr15:75940334-75940347 chr15:75940332-75940350
18	POLR2A	chr15:75939128-75941424	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75745404..75749003-chr15:75939962..75944253,7	K562	blood:
2	chr15:75869706..75871837-chr15:75939750..75941474,2	MCF-7	breast:
3	chr15:75628335..75630040-chr15:75940132..75942573,2	MCF-7	breast:
4	chr15:75870263..75872383-chr15:75940426..75942164,2	K562	blood:
5	chr15:75916178..75919035-chr15:75939504..75941880,2	MCF-7	breast:
6	chr15:75659887..75662361-chr15:75938355..75942043,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC105020.1-2	chr15:75941049-75941347	NONHSAT047357

Variant related genes	Relation type
IMP3	TF binding region
SNX33	TF binding region
ENSG00000260274	Chromatin interaction
ENSG00000140365	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000169371	Chromatin interaction
ENSG00000260235	Chromatin interaction
ENSG00000169375	Chromatin interaction
ENSG00000169410	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12102136	1.00[AMR][1000 genomes]
rs16967294	1.00[AMR][1000 genomes]
rs28362067	1.00[AMR][1000 genomes]
rs28372561	1.00[AMR][1000 genomes]
rs28395383	1.00[AMR][1000 genomes]
rs28396803	1.00[AMR][1000 genomes]
rs28398053	1.00[AMR][1000 genomes]
rs28412110	1.00[AMR][1000 genomes]
rs28413637	1.00[AMR][1000 genomes]
rs28414758	1.00[AMR][1000 genomes]
rs28420558	1.00[AMR][1000 genomes]
rs28432282	1.00[AMR][1000 genomes]
rs28450740	1.00[AMR][1000 genomes]
rs28504376	1.00[AMR][1000 genomes]
rs28505697	1.00[AMR][1000 genomes]
rs28510991	1.00[AMR][1000 genomes]
rs28519586	1.00[AMR][1000 genomes]
rs28530778	1.00[AMR][1000 genomes]
rs28533248	1.00[AMR][1000 genomes]
rs28550881	1.00[AMR][1000 genomes]
rs28567605	1.00[AMR][1000 genomes]
rs28628290	1.00[AMR][1000 genomes]
rs28628820	1.00[AMR][1000 genomes]
rs28645531	1.00[AMR][1000 genomes]
rs28664638	1.00[AMR][1000 genomes]
rs28677951	1.00[AMR][1000 genomes]
rs28695912	1.00[AMR][1000 genomes]
rs28711283	1.00[AMR][1000 genomes]
rs28727341	1.00[AMR][1000 genomes]
rs3991368	1.00[AMR][1000 genomes]
rs56686272	1.00[AMR][1000 genomes]
rs57267837	1.00[AMR][1000 genomes]
rs58167659	1.00[AMR][1000 genomes]
rs58689645	1.00[AMR][1000 genomes]
rs59944002	1.00[AMR][1000 genomes]
rs60159975	1.00[AMR][1000 genomes]
rs60465775	1.00[AMR][1000 genomes]
rs60544586	1.00[AMR][1000 genomes]
rs73436898	1.00[AFR][1000 genomes]
rs73439290	1.00[AMR][1000 genomes]
rs73439302	1.00[AMR][1000 genomes]
rs73442996	1.00[AMR][1000 genomes]
rs73444997	1.00[AMR][1000 genomes]
rs8033538	1.00[AMR][1000 genomes]
rs8039385	1.00[AMR][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	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
6	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
7	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
8	esv1813854	chr15:75898640-76002392	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
10	nsv904391	chr15:75930757-76001654	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
12	nsv904393	chr15:75932177-76001654	Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
13	nsv984485	chr15:75932760-75965433	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 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	chr15:75939000-75941400	Active TSS	Ovary	ovary
2	chr15:75939000-75941400	Active TSS	Pancreas	Pancrea
3	chr15:75939000-75941800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:75939200-75941400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:75939200-75941800	Active TSS	Psoas Muscle	Psoas
6	chr15:75939200-75942200	Active TSS	Aorta	Aorta
7	chr15:75939400-75941400	Active TSS	Fetal Kidney	kidney
8	chr15:75939400-75941400	Active TSS	Gastric	stomach
9	chr15:75939400-75941400	Active TSS	NHLF	lung
10	chr15:75939400-75941600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:75939400-75941600	Active TSS	Brain Angular Gyrus	brain
12	chr15:75939400-75941600	Active TSS	NHDF-Ad	bronchial
13	chr15:75939400-75941800	Active TSS	Brain Substantia Nigra	brain
14	chr15:75939400-75944200	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr15:75939600-75941600	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr15:75939600-75942000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr15:75939600-75942000	Active TSS	HSMMtube	muscle
18	chr15:75939600-75942200	Active TSS	Brain Hippocampus Middle	brain
19	chr15:75940200-75942000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
20	chr15:75940400-75941400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:75940400-75941400	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr15:75940400-75941400	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr15:75940400-75941600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr15:75940800-75941400	Flanking Active TSS	HUVEC	blood vessel
25	chr15:75940800-75941600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr15:75940800-75941600	Active TSS	Brain Germinal Matrix	brain
27	chr15:75940800-75941600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr15:75940800-75941600	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr15:75940800-75941800	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr15:75940800-75941800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
31	chr15:75940800-75941800	Flanking Active TSS	Fetal Lung	lung
32	chr15:75940800-75942000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr15:75940800-75942200	Flanking Active TSS	Liver	Liver
34	chr15:75940800-75942200	Weak transcription	Dnd41	blood
35	chr15:75941000-75941400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:75941000-75941400	Flanking Active TSS	Fetal Stomach	stomach
37	chr15:75941000-75941400	Bivalent Enhancer	Fetal Thymus	thymus
38	chr15:75941000-75941400	Flanking Active TSS	A549	lung
39	chr15:75941000-75941600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:75941000-75941600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr15:75941000-75941800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:75941000-75941800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr15:75941000-75941800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:75941000-75941800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr15:75941000-75941800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:75941000-75941800	Flanking Active TSS	Right Ventricle	heart
47	chr15:75941000-75941800	Flanking Active TSS	K562	blood
48	chr15:75941000-75941800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr15:75941000-75942000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr15:75941000-75942000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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