Variant report

Variant	rs74100118
Chromosome Location	chr12:66609378-66609379
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	chr12:66562009..66565017-chr12:66607672..66610931,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HELB-3	chr12:66609321-66609434	l_669_chr12:66609320-66613349_heart

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12303177	0.93[AFR][1000 genomes]
rs28461893	0.93[AFR][1000 genomes]
rs74100111	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats 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 miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a
5	esv20613	chr12:66609223-66609834	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:66589600-66623400	Weak transcription	Spleen	Spleen
3	chr12:66592400-66628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:66593400-66613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:66597600-66623400	Weak transcription	Aorta	Aorta
6	chr12:66604000-66620200	Weak transcription	Lung	lung
7	chr12:66604400-66628800	Weak transcription	Right Ventricle	heart
8	chr12:66604800-66610600	Strong transcription	Fetal Lung	lung
9	chr12:66605200-66628800	Weak transcription	Psoas Muscle	Psoas
10	chr12:66605400-66628200	Weak transcription	NHDF-Ad	bronchial
11	chr12:66605600-66611400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:66606000-66610400	Weak transcription	Primary B cells from cord blood	blood
13	chr12:66606200-66609400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:66606200-66609800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:66606200-66610600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:66606400-66620000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:66606800-66611600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:66606800-66612400	Weak transcription	Adipose Nuclei	Adipose
19	chr12:66606800-66623000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:66606800-66625800	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:66607000-66611200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:66607200-66611000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:66608000-66609400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:66608000-66611000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:66608600-66610000	Enhancers	Fetal Intestine Large	intestine
26	chr12:66608600-66610000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr12:66608800-66610000	Enhancers	Fetal Intestine Small	intestine
28	chr12:66608800-66628800	Weak transcription	Gastric	stomach
29	chr12:66609000-66609600	Enhancers	HepG2	liver
30	chr12:66609000-66609800	Enhancers	Stomach Mucosa	stomach
31	chr12:66609000-66610000	Enhancers	Duodenum Mucosa	Duodenum
32	chr12:66609000-66610200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr12:66609000-66610400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:66609000-66628800	Weak transcription	Left Ventricle	heart
35	chr12:66609200-66609400	Enhancers	Small Intestine	intestine
36	chr12:66609200-66610600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr12:66609200-66610800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:66609200-66628800	Weak transcription	Colonic Mucosa	Colon
39	chr12:66609200-66629000	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links