Variant report

Variant	rs7171451
Chromosome Location	chr15:41043719-41043720
allele	C/T
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:2)
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	chr15:41043711-41043761	MCF10A-Er-Src	breast:	n/a
2	chr15:41043711-41043761	GM19239	blood:	n/a
3	chr15:41043711-41043761	SK-N-MC	brain:	n/a
4	chr15:41043711-41043761	HUVEC	blood vessel:	n/a
5	chr15:41043711-41043761	AoSMC	blood vessel:	n/a
6	chr15:41043711-41043761	HRCEpiC	kidney:	n/a
7	chr15:41043711-41043761	HIPEpiC	eye:	n/a
8	chr15:41043711-41043761	NHBE	bronchial:	n/a
9	chr15:41043711-41043761	HEK293	kidney:	embryo
10	chr15:41043711-41043761	LNCaP	prostate:	n/a
11	chr15:41043711-41043761	HEEpiC	esophagus:	n/a
12	chr15:41043711-41043761	AG10803	skin:	n/a
13	chr15:41043711-41043761	BJ	skin:	n/a
14	chr15:41043711-41043761	HRPEpiC	eye:	n/a
15	chr15:41043711-41043761	HNPCEpiC	eye:	n/a
16	chr15:41043711-41043761	AG09319	gingival:	n/a
17	chr15:41043711-41043761	Hepatocyte	liver:	n/a
18	chr15:41043711-41043761	HPAEpiC	pulmonary alveolar:	n/a
19	chr15:41043711-41043761	SK-N-SH_RA	brain:	n/a
20	chr15:41043711-41043761	Jurkat	blood:	n/a
21	chr15:41043711-41043761	ECC-1	luminal epithelium:	n/a
22	chr15:41043711-41043761	AG04450	lung:	fetal
23	chr15:41043711-41043761	ovcar-3	ovarian:	n/a
24	chr15:41043711-41043761	H1-hESC	embryonic stem cell:	embryo
25	chr15:41043711-41043761	GM12892	blood:	n/a
26	chr15:41043711-41043761	GM12878	blood:	n/a
27	chr15:41043711-41043761	HCT-116	colon:	n/a
28	chr15:41043711-41043761	HCF	heart:	n/a
29	chr15:41043711-41043761	HAEpiC	amniotic membrane:	n/a
30	chr15:41043711-41043761	AG04449	skin:	fetal
31	chr15:41043711-41043761	U87	brain:	n/a
32	chr15:41043711-41043761	IMR90	lung:	fetal
33	chr15:41043711-41043761	HepG2	liver:	n/a
34	chr15:41043711-41043761	SKMC	muscle:	n/a
35	chr15:41043711-41043761	Hela-S3	cervix:	n/a
36	chr15:41043711-41043761	GM12891	blood:	n/a
37	chr15:41043711-41043761	A549	lung:	n/a
38	chr15:41043711-41043761	AG09309	skin:	n/a
39	chr15:41043711-41043761	NHDF-neo	bronchial:	n/a
40	chr15:41043711-41043761	T-47D	breast:	n/a
41	chr15:41043711-41043761	K562	blood:	n/a
42	chr15:41043711-41043761	HCM	heart:	n/a
43	chr15:41043711-41043761	HL-60	blood:	n/a
44	chr15:41043711-41043761	SAEC	small airway:	n/a
45	chr15:41043711-41043761	NB4	blood:	n/a
46	chr15:41043711-41043761	CMK	blood:	n/a
47	chr15:41043711-41043761	Caco-2	colon:	n/a
48	chr15:41043711-41043761	GM06990	blood:	n/a
49	chr15:41043711-41043761	PANC-1	pancreas:	n/a
50	chr15:41043711-41043761	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:41042059..41049706-chr15:41053861..41061949,15	MCF-7	breast:
2	chr15:41039383..41041132-chr15:41043331..41044859,2	MCF-7	breast:

No data

Variant related genes	Relation type
RMDN3	CpG island
ENSG00000137880	Chromatin interaction
ENSG00000137824	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10220885	1.00[EUR][1000 genomes]
rs12323939	1.00[EUR][1000 genomes]
rs16971119	1.00[EUR][1000 genomes]
rs45501094	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45571032	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45604436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55896567	1.00[EUR][1000 genomes]
rs55906732	1.00[EUR][1000 genomes]
rs56229816	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57242620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57288992	1.00[EUR][1000 genomes]
rs58097169	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58375351	1.00[EUR][1000 genomes]
rs58681580	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58738238	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59508492	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59528823	1.00[EUR][1000 genomes]
rs59558714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60109064	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60111609	1.00[EUR][1000 genomes]
rs60163307	1.00[EUR][1000 genomes]
rs60578270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60822673	1.00[EUR][1000 genomes]
rs6492962	0.89[ASW][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6492963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7161941	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7164574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166733	1.00[EUR][1000 genomes]
rs7167831	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs7168217	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs7169273	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7171898	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7172356	0.92[LWK][hapmap];0.83[MKK][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7178058	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs7178244	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182066	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182516	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74011887	1.00[EUR][1000 genomes]
rs74011888	1.00[EUR][1000 genomes]
rs74011933	1.00[EUR][1000 genomes]
rs74011936	1.00[EUR][1000 genomes]
rs8025846	0.85[YRI][hapmap]
rs8035580	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8038751	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8039169	1.00[EUR][1000 genomes]
rs8039942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8040579	1.00[EUR][1000 genomes]
rs8040925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9672224	1.00[EUR][1000 genomes]
rs9744142	1.00[EUR][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	nsv1053173	chr15:40933163-41094127	Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv542363	chr15:40933163-41094127	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41008200-41046600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:41019400-41046200	Strong transcription	Fetal Stomach	stomach
3	chr15:41020800-41045400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr15:41021800-41044600	Strong transcription	Brain Germinal Matrix	brain
5	chr15:41023200-41045200	Strong transcription	Thymus	Thymus
6	chr15:41023800-41045200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:41025600-41045000	Strong transcription	Primary T cells from cord blood	blood
8	chr15:41025600-41045400	Strong transcription	Stomach Smooth Muscle	stomach
9	chr15:41026000-41044600	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:41026200-41044600	Strong transcription	Lung	lung
11	chr15:41026800-41045200	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr15:41030800-41044000	Weak transcription	Psoas Muscle	Psoas
13	chr15:41031000-41046600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:41032600-41046200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr15:41032600-41046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:41032600-41046600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr15:41034200-41045800	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr15:41034400-41044400	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:41034400-41044600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:41034400-41045200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr15:41034600-41044800	Strong transcription	Brain Substantia Nigra	brain
22	chr15:41034600-41045800	Genic enhancers	Fetal Intestine Small	intestine
23	chr15:41034800-41044400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr15:41034800-41044600	Strong transcription	Fetal Brain Female	brain
25	chr15:41034800-41046200	Genic enhancers	Fetal Intestine Large	intestine
26	chr15:41035800-41046600	Weak transcription	Right Atrium	heart
27	chr15:41036600-41044600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:41036600-41045200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr15:41036600-41045400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:41036600-41045800	Weak transcription	NH-A	brain
31	chr15:41036800-41043800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr15:41036800-41044400	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr15:41036800-41046000	Weak transcription	Fetal Heart	heart
34	chr15:41036800-41046200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:41037000-41044400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:41037000-41044800	Weak transcription	Small Intestine	intestine
37	chr15:41037000-41045600	Strong transcription	NHEK	skin
38	chr15:41037200-41045200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:41037200-41046200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:41037400-41044800	Strong transcription	Liver	Liver
41	chr15:41037400-41045000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr15:41037400-41045200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:41037400-41045800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr15:41037600-41044600	Strong transcription	Fetal Muscle Leg	muscle
45	chr15:41038200-41046600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:41038600-41044000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:41039000-41044400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:41039000-41044400	Strong transcription	Esophagus	oesophagus
49	chr15:41039200-41044200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:41039200-41044400	Strong transcription	Left Ventricle	heart

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