Variant report

Variant	rs61748068
Chromosome Location	chr12:104186995-104186996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF217	chr12:104186834-104187138	MCF-7	breast:	n/a	n/a
2	CEBPB	chr12:104186839-104187244	MCF-7	breast:	n/a	n/a
3	GATA3	chr12:104186765-104187306	MCF-7	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104181732..104183493-chr12:104185105..104187662,2	K562	blood:
2	chr12:104186877..104189949-chr12:104233437..104236104,3	MCF-7	breast:
3	chr12:104186150..104188258-chr12:104233575..104235121,2	K562	blood:
4	chr12:104178670..104180428-chr12:104186156..104188204,2	K562	blood:
5	chr12:104183990..104193430-chr12:104193641..104204611,16	MCF-7	breast:

No data

Variant related genes	Relation type
NT5DC3	TF binding region
ENSG00000257327	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1057892	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12229599	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12422418	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12422615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12422701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12423476	0.88[EUR][1000 genomes]
rs12423889	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12423912	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12423994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12424929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12424984	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12425283	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12425537	1.00[AFR][1000 genomes]
rs1437505	0.89[EUR][1000 genomes]
rs1550207	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1550208	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17034593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17034620	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17034625	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs17034637	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17034639	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17034640	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17034642	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17034645	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17034648	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17034650	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17034662	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs17794246	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2289258	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3751196	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3812802	0.90[EUR][1000 genomes]
rs55724382	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55736751	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs55810720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55932227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55949441	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs55987022	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55993375	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs56123042	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs56143748	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs56147174	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56255894	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56314567	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs56403068	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs57173983	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59651914	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs59716163	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs60378307	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61512578	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7295408	0.90[EUR][1000 genomes]
rs7314150	0.90[EUR][1000 genomes]
rs7485127	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats 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	7 gene(s)	inside rSNPs	diseases
3	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv899490	chr12:104149022-104218956	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104157400-104191200	Weak transcription	HUVEC	blood vessel
2	chr12:104163600-104204200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:104165800-104193400	Weak transcription	Fetal Lung	lung
4	chr12:104166400-104188400	Weak transcription	Fetal Thymus	thymus
5	chr12:104167200-104199800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:104168000-104190800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:104169000-104197800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:104171200-104193600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:104171400-104188200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:104171600-104187400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:104171600-104194000	Weak transcription	Brain Substantia Nigra	brain
12	chr12:104171800-104187600	Weak transcription	Fetal Brain Female	brain
13	chr12:104171800-104216000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:104172400-104191400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:104173800-104208800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:104174000-104194200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:104175000-104187000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:104175200-104190000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:104177800-104207600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr12:104178200-104187600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:104178400-104188400	Weak transcription	Brain Anterior Caudate	brain
22	chr12:104178600-104193400	Weak transcription	Left Ventricle	heart
23	chr12:104178800-104194000	Weak transcription	Brain Angular Gyrus	brain
24	chr12:104178800-104194200	Weak transcription	Esophagus	oesophagus
25	chr12:104179000-104187000	Weak transcription	Pancreas	Pancrea
26	chr12:104179000-104187000	Weak transcription	Psoas Muscle	Psoas
27	chr12:104179000-104188000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:104179000-104188400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:104179000-104188600	Weak transcription	Lung	lung
30	chr12:104179000-104190600	Weak transcription	Gastric	stomach
31	chr12:104179000-104193200	Weak transcription	Spleen	Spleen
32	chr12:104179000-104193600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:104179200-104188200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:104179400-104188400	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:104179400-104191400	Weak transcription	Hela-S3	cervix
36	chr12:104179400-104193800	Weak transcription	Fetal Kidney	kidney
37	chr12:104179800-104192800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:104179800-104193800	Weak transcription	NHDF-Ad	bronchial
39	chr12:104180000-104188600	Weak transcription	HepG2	liver
40	chr12:104182400-104187600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr12:104183600-104192800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:104183800-104193600	Weak transcription	Stomach Mucosa	stomach
43	chr12:104184200-104187800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:104184800-104188600	Strong transcription	Fetal Stomach	stomach
45	chr12:104184800-104190400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:104184800-104192600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:104184800-104193400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:104185000-104187600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:104185000-104188200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:104185000-104189200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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