Variant report

Variant	rs16833741
Chromosome Location	chr1:151958783-151958784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151957747..151960576-chr1:152018452..152020674,2	MCF-7	breast:
2	chr1:151958312..151964069-chr1:151964449..151968550,6	K562	blood:
3	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
4	chr1:151957047..151958820-chr1:151961380..151963425,2	K562	blood:
5	chr1:151958341..151960703-chr1:152042436..152044270,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163191	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000229021	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1021364	1.00[ASN][1000 genomes]
rs1021365	0.87[ASN][1000 genomes]
rs16833612	0.86[ASN][1000 genomes]
rs16833667	0.86[ASN][1000 genomes]
rs16833725	0.87[ASN][1000 genomes]
rs16833730	0.87[ASN][1000 genomes]
rs2087551	0.86[ASN][1000 genomes]
rs4845725	1.00[CHD][hapmap]

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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv2855	chr1:151936470-151966381	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	85 gene(s)	inside rSNPs	diseases
6	nsv947323	chr1:151956610-151960426	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151941600-151961200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:151946600-151958800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:151949200-151963200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:151951000-151961800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:151951600-151960800	Weak transcription	Fetal Thymus	thymus
6	chr1:151951800-151961800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:151952400-151959600	Genic enhancers	NHDF-Ad	bronchial
8	chr1:151952400-151960800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:151952600-151960400	Genic enhancers	NHEK	skin
10	chr1:151952800-151959400	Strong transcription	Primary T cells from cord blood	blood
11	chr1:151953000-151958800	Strong transcription	Stomach Smooth Muscle	stomach
12	chr1:151953200-151958800	Strong transcription	Fetal Lung	lung
13	chr1:151953400-151958800	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr1:151953400-151959200	Genic enhancers	Placenta Amnion	Placenta Amnion
15	chr1:151953400-151959200	Strong transcription	Dnd41	blood
16	chr1:151953400-151959400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:151953400-151959400	Strong transcription	Psoas Muscle	Psoas
18	chr1:151953400-151959400	Genic enhancers	HSMM	muscle
19	chr1:151953600-151959000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:151953600-151959400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:151953600-151959400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:151953600-151959400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:151953600-151959400	Strong transcription	Liver	Liver
24	chr1:151953800-151959400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:151954000-151958800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:151954000-151958800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr1:151954000-151958800	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:151954000-151958800	Strong transcription	Left Ventricle	heart
29	chr1:151954000-151960400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:151954000-151960400	Weak transcription	Right Atrium	heart
31	chr1:151954400-151959400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:151954800-151958800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:151954800-151958800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:151954800-151958800	Strong transcription	Esophagus	oesophagus
35	chr1:151954800-151958800	Strong transcription	Placenta	Placenta
36	chr1:151954800-151959400	Strong transcription	HepG2	liver
37	chr1:151955800-151961600	Weak transcription	Brain Anterior Caudate	brain
38	chr1:151956200-151958800	Genic enhancers	Small Intestine	intestine
39	chr1:151956200-151959400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr1:151956200-151959400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:151956200-151961000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:151956400-151958800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:151956400-151959600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
44	chr1:151956400-151960600	Genic enhancers	HMEC	breast
45	chr1:151956600-151959400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:151956600-151961600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:151956800-151958800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:151956800-151959400	Genic enhancers	Fetal Intestine Large	intestine
49	chr1:151957000-151959400	Genic enhancers	NHLF	lung
50	chr1:151957000-151961200	Weak transcription	Pancreas	Pancrea

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