Variant report

Variant	rs34607939
Chromosome Location	chr15:72664056-72664057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72664055-72664105	LNCaP	prostate:	n/a
2	chr15:72664055-72664105	GM12891	blood:	n/a
3	chr15:72664055-72664105	SKMC	muscle:	n/a
4	chr15:72664055-72664105	PFSK-1	brain:	n/a
5	chr15:72664055-72664105	Hela-S3	cervix:	n/a
6	chr15:72664055-72664105	AG10803	skin:	n/a
7	chr15:72664055-72664105	HRCEpiC	kidney:	n/a
8	chr15:72664055-72664105	PANC-1	pancreas:	n/a
9	chr15:72664055-72664105	AoSMC	blood vessel:	n/a
10	chr15:72664055-72664105	BJ	skin:	n/a
11	chr15:72664055-72664105	BE2_C	brain:	n/a
12	chr15:72664055-72664105	NHDF-neo	bronchial:	n/a
13	chr15:72664055-72664105	ovcar-3	ovarian:	n/a
14	chr15:72664055-72664105	SK-N-SH	brain:	n/a
15	chr15:72664055-72664105	Hepatocyte	liver:	n/a
16	chr15:72664055-72664105	AG04450	lung:	fetal
17	chr15:72664055-72664105	GM19239	blood:	n/a
18	chr15:72664055-72664105	NHBE	bronchial:	n/a
19	chr15:72664055-72664105	GM12892	blood:	n/a
20	chr15:72664055-72664105	HCT-116	colon:	n/a
21	chr15:72664055-72664105	HIPEpiC	eye:	n/a
22	chr15:72664055-72664105	ProgFib	skin:	n/a
23	chr15:72664055-72664105	SAEC	small airway:	n/a
24	chr15:72664055-72664105	IMR90	lung:	fetal
25	chr15:72664055-72664105	AG09309	skin:	n/a
26	chr15:72664055-72664105	HEEpiC	esophagus:	n/a
27	chr15:72664055-72664105	CMK	blood:	n/a
28	chr15:72664055-72664105	HRPEpiC	eye:	n/a
29	chr15:72664055-72664105	HCPEpiC	choroid plexus:	n/a
30	chr15:72664055-72664105	MCF-7	breast:	n/a
31	chr15:72664055-72664105	U87	brain:	n/a
32	chr15:72664055-72664105	HNPCEpiC	eye:	n/a
33	chr15:72664055-72664105	H1-hESC	embryonic stem cell:	embryo
34	chr15:72664055-72664105	HRE	kidney:	n/a
35	chr15:72664055-72664105	HAEpiC	amniotic membrane:	n/a
36	chr15:72664055-72664105	AG09319	gingival:	n/a
37	chr15:72664055-72664105	A549	lung:	n/a
38	chr15:72664055-72664105	Jurkat	blood:	n/a
39	chr15:72664055-72664105	ECC-1	luminal epithelium:	n/a
40	chr15:72664055-72664105	HepG2	liver:	n/a
41	chr15:72664055-72664105	GM06990	blood:	n/a
42	chr15:72664055-72664105	HPAEpiC	pulmonary alveolar:	n/a
43	chr15:72664055-72664105	NB4	blood:	n/a
44	chr15:72664055-72664105	HL-60	blood:	n/a
45	chr15:72664055-72664105	HCF	heart:	n/a
46	chr15:72664055-72664105	NH-A	brain:	n/a
47	chr15:72664055-72664105	HEK293	kidney:	embryo
48	chr15:72664055-72664105	AG04449	skin:	fetal
49	chr15:72664055-72664105	Caco-2	colon:	n/a
50	chr15:72664055-72664105	PrEC	prostate:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72663502..72665826-chr15:72667714..72669671,3	MCF-7	breast:
2	chr15:72660052..72661960-chr15:72663740..72668025,4	MCF-7	breast:
3	chr15:72661509..72665290-chr15:72667048..72670487,7	K562	blood:

No data

Variant related genes	Relation type
HEXA-AS1	CpG island
ENSG00000213614	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000260729	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10220850	0.90[EUR][1000 genomes]
rs12900465	1.00[EUR][1000 genomes]
rs12902983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12904334	1.00[AMR][1000 genomes]
rs12904378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12904667	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12907707	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12908883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12914829	1.00[AMR][1000 genomes]
rs2912203	1.00[AMR][1000 genomes]
rs2912204	1.00[AMR][1000 genomes]
rs2912215	1.00[AMR][1000 genomes]
rs2912222	1.00[AMR][1000 genomes]
rs2912224	1.00[AMR][1000 genomes]
rs2912225	1.00[AMR][1000 genomes]
rs2959916	1.00[AMR][1000 genomes]
rs2959917	1.00[AMR][1000 genomes]
rs2959918	1.00[AMR][1000 genomes]
rs2959919	1.00[AMR][1000 genomes]
rs2959923	1.00[AMR][1000 genomes]
rs2959924	1.00[AMR][1000 genomes]
rs2959927	1.00[AMR][1000 genomes]
rs2959929	1.00[AMR][1000 genomes]
rs2959931	1.00[AMR][1000 genomes]
rs33999922	1.00[EUR][1000 genomes]
rs34115124	0.89[EUR][1000 genomes]
rs34511502	1.00[AMR][1000 genomes]
rs35202897	0.89[EUR][1000 genomes]
rs35457238	1.00[AMR][1000 genomes]
rs35511514	1.00[EUR][1000 genomes]
rs71395074	0.89[EUR][1000 genomes]
rs71397231	0.89[EUR][1000 genomes]
rs71397232	0.89[EUR][1000 genomes]
rs71397233	0.89[EUR][1000 genomes]
rs71397236	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71411063	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	172 gene(s)	inside rSNPs	diseases
4	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 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	chr15:72613200-72666800	Weak transcription	Fetal Heart	heart
2	chr15:72613400-72667600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:72634600-72667400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:72640600-72667200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr15:72641800-72664800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:72642000-72667000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:72648400-72667600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:72648600-72667000	Weak transcription	Colonic Mucosa	Colon
9	chr15:72648600-72667200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:72648800-72667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:72649000-72667600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:72649200-72666800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:72649200-72667000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:72649200-72667000	Weak transcription	Fetal Brain Female	brain
15	chr15:72649200-72667600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr15:72649400-72666600	Weak transcription	Gastric	stomach
17	chr15:72649400-72667000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr15:72651400-72667200	Weak transcription	Brain Angular Gyrus	brain
19	chr15:72651600-72667800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:72651800-72666800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:72651800-72667000	Weak transcription	NHDF-Ad	bronchial
22	chr15:72651800-72667000	Weak transcription	Osteobl	bone
23	chr15:72651800-72667200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:72651800-72667200	Weak transcription	HSMM	muscle
25	chr15:72651800-72667200	Weak transcription	NHLF	lung
26	chr15:72652000-72666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:72653200-72665000	Weak transcription	Psoas Muscle	Psoas
28	chr15:72657400-72664600	Strong transcription	Fetal Intestine Small	intestine
29	chr15:72658600-72665200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:72658800-72666600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:72659200-72665200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:72659400-72667000	Weak transcription	HSMMtube	muscle
33	chr15:72659600-72666600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:72659800-72664200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr15:72659800-72664400	Strong transcription	Thymus	Thymus
36	chr15:72660000-72665800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr15:72660200-72664800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr15:72660200-72665000	Weak transcription	Dnd41	blood
39	chr15:72660200-72666600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:72660200-72666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:72660400-72664400	Strong transcription	Hela-S3	cervix
42	chr15:72660600-72664400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr15:72661000-72664400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr15:72661200-72666400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr15:72661200-72667400	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr15:72661400-72667200	Weak transcription	Right Ventricle	heart
47	chr15:72661600-72664200	Weak transcription	Spleen	Spleen
48	chr15:72661600-72665600	Weak transcription	Brain Germinal Matrix	brain
49	chr15:72661600-72667400	Weak transcription	Esophagus	oesophagus
50	chr15:72661600-72667800	Enhancers	Primary neutrophils fromperipheralblood	blood

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