Variant report

Variant	rs1182141
Chromosome Location	chr7:2913873-2913874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2903257..2906477-chr7:2913665..2917327,3	K562	blood:
2	chr7:2902294..2906267-chr7:2911344..2915860,6	MCF-7	breast:
3	chr7:2765987..2767682-chr7:2913183..2915422,2	MCF-7	breast:
4	chr7:2902048..2907034-chr7:2912028..2916176,7	K562	blood:
5	chr7:2912565..2914175-chr7:2952368..2955309,3	MCF-7	breast:
6	chr7:2912265..2915088-chr7:2952209..2954245,2	K562	blood:
7	chr7:2907345..2909750-chr7:2913621..2916060,3	K562	blood:
8	chr7:2913414..2914953-chr7:3113951..3116529,2	MCF-7	breast:
9	chr7:2872743..2875246-chr7:2912589..2914983,2	MCF-7	breast:
10	chr7:2913057..2915172-chr7:3198284..3201204,2	MCF-7	breast:
11	chr7:2912665..2915404-chr7:2954032..2956544,2	MCF-7	breast:
12	chr7:2756357..2758230-chr7:2913588..2915207,2	K562	blood:
13	chr5:16465524..16466470-chr7:2913633..2914157,2	Hela-S3	cervix:
14	chr7:2899669..2908273-chr7:2908845..2917311,19	MCF-7	breast:
15	chr7:2913535..2915898-chr7:3339712..3342447,2	MCF-7	breast:
16	chr7:2912477..2915576-chr7:3192783..3198437,6	MCF-7	breast:
17	chr7:2913679..2915409-chr7:2948312..2950468,2	K562	blood:
18	chr7:2913651..2914154-chr7:100464016..100464516,2	Hela-S3	cervix:
19	chr7:2912356..2915024-chr7:3064651..3067046,2	MCF-7	breast:
20	chr7:2763542..2765998-chr7:2913273..2914846,2	MCF-7	breast:
21	chr7:2758388..2761774-chr7:2912256..2915270,3	K562	blood:
22	chr7:2794522..2796441-chr7:2912827..2915695,3	MCF-7	breast:
23	chr7:2812694..2814409-chr7:2912696..2915342,2	K562	blood:
24	chr7:2741629..2743358-chr7:2912496..2914112,2	MCF-7	breast:
25	chr7:2761837..2763894-chr7:2912353..2913943,2	MCF-7	breast:
26	chr7:2894850..2898157-chr7:2912459..2915037,3	MCF-7	breast:
27	chr7:2685231..2686928-chr7:2913627..2916260,2	MCF-7	breast:
28	chr2:85134041..85134649-chr7:2913572..2914169,2	Hela-S3	cervix:
29	chr7:2913187..2915316-chr7:2934287..2938323,4	MCF-7	breast:
30	chr7:2899154..2902095-chr7:2911868..2915224,3	MCF-7	breast:
31	chr7:2913332..2915358-chr7:2931713..2934636,3	MCF-7	breast:
32	chr7:2895086..2897225-chr7:2913092..2915364,2	MCF-7	breast:
33	chr7:2911909..2914760-chr7:3102455..3104497,2	MCF-7	breast:
34	chr7:2912621..2916379-chr7:3234649..3238028,4	MCF-7	breast:
35	chr7:2912750..2915143-chr7:3228683..3231010,3	MCF-7	breast:
36	chr2:63881623..63882123-chr7:2913394..2913983,2	MCF-7	breast:
37	chr7:2882613..2885726-chr7:2911759..2915688,5	MCF-7	breast:
38	chr7:2843670..2845376-chr7:2912642..2914150,2	MCF-7	breast:
39	chr7:2726315..2729215-chr7:2912425..2915656,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236708	Chromatin interaction
ENSG00000231892	Chromatin interaction
ENSG00000186854	Chromatin interaction
ENSG00000173545	Chromatin interaction
ENSG00000146555	Chromatin interaction
ENSG00000217455	Chromatin interaction
ENSG00000146535	Chromatin interaction
ENSG00000174945	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1182142	0.81[CHB][hapmap]
rs1182143	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs1182144	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs2527521	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv887313	chr7:2875420-2927120	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv887314	chr7:2875420-2944187	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv887315	chr7:2895627-2935424	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv526132	chr7:2904928-2968361	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv887316	chr7:2904928-2983520	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv887317	chr7:2911972-2944187	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv971481	chr7:2913356-2925013	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv3383615	chr7:2913367-2913941	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1182141	GNA12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2903600-2921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:2903800-2914600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:2903800-2915800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:2903800-2919000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:2905200-2919000	Weak transcription	Fetal Brain Male	brain
6	chr7:2910200-2915600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:2910200-2915800	Weak transcription	Pancreas	Pancrea
8	chr7:2910400-2914800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:2910600-2915600	Weak transcription	Brain Germinal Matrix	brain
10	chr7:2910600-2918800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:2910800-2918800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:2910800-2919000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:2911400-2914200	Weak transcription	Primary T cells from cord blood	blood
14	chr7:2911600-2917800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:2911600-2918600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:2911800-2917200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:2911800-2917800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr7:2912000-2914400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:2912000-2915600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr7:2912400-2915800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:2912600-2915200	Enhancers	Fetal Thymus	thymus
22	chr7:2912600-2919800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:2912800-2914000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:2912800-2914200	Enhancers	Fetal Muscle Leg	muscle
25	chr7:2912800-2914200	Enhancers	HUVEC	blood vessel
26	chr7:2912800-2915000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:2912800-2916000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:2912800-2916400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:2912800-2916400	Enhancers	NHEK	skin
30	chr7:2913000-2914000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:2913000-2914200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:2913000-2914200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:2913000-2914200	Enhancers	HSMM	muscle
34	chr7:2913000-2914800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:2913000-2918800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:2913200-2914000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr7:2913200-2914200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:2913200-2914200	Enhancers	Primary hematopoietic stem cells	blood
39	chr7:2913200-2914200	Enhancers	Brain Hippocampus Middle	brain
40	chr7:2913200-2920800	Weak transcription	Right Atrium	heart
41	chr7:2913400-2914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:2913400-2918600	Weak transcription	Spleen	Spleen
43	chr7:2913600-2914200	Enhancers	Brain Cingulate Gyrus	brain
44	chr7:2913600-2914600	Weak transcription	HMEC	breast
45	chr7:2913600-2914600	Weak transcription	NH-A	brain
46	chr7:2913600-2915400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:2913600-2915400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:2913600-2915600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:2913600-2917800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:2913600-2919000	Weak transcription	Fetal Kidney	kidney

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