Variant report

Variant	rs12215997
Chromosome Location	chr6:144785899-144785900
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144778116..144781103-chr6:144785812..144788020,2	MCF-7	breast:
2	chr6:144784872..144786671-chr6:144789063..144790864,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10428720	0.87[EUR][1000 genomes]
rs10457762	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12192454	0.87[EUR][1000 genomes]
rs12194050	1.00[AMR][1000 genomes]
rs12204844	0.87[EUR][1000 genomes]
rs12205552	0.87[EUR][1000 genomes]
rs12206968	0.87[EUR][1000 genomes]
rs12211195	0.87[EUR][1000 genomes]
rs12215350	0.87[EUR][1000 genomes]
rs28362044	0.87[EUR][1000 genomes]
rs28733692	0.87[EUR][1000 genomes]
rs6923012	0.87[EUR][1000 genomes]
rs7749416	0.87[EUR][1000 genomes]
rs9484883	0.87[EUR][1000 genomes]
rs9484885	0.87[EUR][1000 genomes]
rs9496992	0.87[EUR][1000 genomes]
rs9496993	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1023014	chr6:144717963-144806691	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886739	chr6:144719765-144796516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12215997	SF1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144740800-144787600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:144741000-144801800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:144756000-144810600	Weak transcription	Small Intestine	intestine
4	chr6:144762800-144788200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:144762800-144790800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr6:144762800-144791400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:144763000-144790800	Strong transcription	Primary B cells from cord blood	blood
8	chr6:144763000-144813800	Weak transcription	Brain Anterior Caudate	brain
9	chr6:144763200-144790800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr6:144763200-144793600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr6:144764000-144790200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:144764200-144788000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:144764200-144788200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:144764400-144838800	Weak transcription	A549	lung
15	chr6:144769000-144787800	Weak transcription	NHEK	skin
16	chr6:144771400-144815800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:144771800-144811800	Weak transcription	Stomach Mucosa	stomach
18	chr6:144772000-144788200	Weak transcription	Ovary	ovary
19	chr6:144774600-144790800	Strong transcription	Primary B cells from peripheral blood	blood
20	chr6:144778400-144786400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr6:144778400-144788400	Strong transcription	HUVEC	blood vessel
22	chr6:144778600-144786200	Strong transcription	Liver	Liver
23	chr6:144778600-144786800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:144778600-144813800	Weak transcription	Hela-S3	cervix
25	chr6:144779200-144786400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:144779200-144790800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:144779400-144786200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:144779400-144786200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:144779400-144786400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:144779400-144786800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:144780000-144786400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:144780000-144786400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr6:144780000-144786400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr6:144780000-144789200	Strong transcription	Adipose Nuclei	Adipose
35	chr6:144780600-144788200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:144780600-144794800	Weak transcription	NHDF-Ad	bronchial
37	chr6:144781000-144791200	Weak transcription	Fetal Intestine Small	intestine
38	chr6:144781000-144801000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:144781200-144788200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:144781200-144788200	Weak transcription	Fetal Stomach	stomach
41	chr6:144781600-144786400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:144781600-144788200	Weak transcription	Pancreas	Pancrea
43	chr6:144781600-144791400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:144781800-144788200	Weak transcription	Esophagus	oesophagus
45	chr6:144781800-144788400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:144781800-144806600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:144782000-144786600	Strong transcription	Dnd41	blood
48	chr6:144782000-144787000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:144782000-144788400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr6:144782000-144788400	Weak transcription	Fetal Heart	heart

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