Variant report

Variant	rs72929214
Chromosome Location	chr1:70675957-70675958
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:70675921-70676391	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:70674826..70679166-chr1:70682889..70688598,11	K562	blood:
2	chr1:70675754..70677274-chr1:70677363..70679421,2	K562	blood:
3	chr1:70670145..70673365-chr1:70675136..70679229,4	K562	blood:
4	chr1:70674646..70677124-chr1:70684729..70687341,2	MCF-7	breast:
5	chr1:70674179..70677274-chr1:70677921..70681026,3	K562	blood:

No data

Variant related genes	Relation type
LRRC40	TF binding region
ENSG00000066557	Chromatin interaction
ENSG00000228988	Chromatin interaction
ENSG00000116754	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs56688715	1.00[AMR][1000 genomes]
rs57627286	1.00[AMR][1000 genomes]
rs57928672	1.00[AMR][1000 genomes]
rs59856193	1.00[AMR][1000 genomes]
rs61084750	1.00[AMR][1000 genomes]
rs61493071	1.00[AMR][1000 genomes]
rs72917819	1.00[AMR][1000 genomes]
rs72917823	1.00[AMR][1000 genomes]
rs72921081	1.00[AMR][1000 genomes]
rs72929203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929211	1.00[AMR][1000 genomes]
rs72929215	1.00[AMR][1000 genomes]
rs72929225	1.00[AMR][1000 genomes]
rs72929226	1.00[AMR][1000 genomes]
rs72929228	1.00[AMR][1000 genomes]
rs72929237	1.00[AMR][1000 genomes]
rs72929241	1.00[AMR][1000 genomes]
rs72929267	1.00[AMR][1000 genomes]
rs72929272	1.00[AMR][1000 genomes]
rs72929277	1.00[AMR][1000 genomes]
rs72929286	1.00[AMR][1000 genomes]
rs72929299	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70672000-70686200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:70672000-70687000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:70672400-70676000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:70672400-70677400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:70672400-70681200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:70672400-70686800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:70672600-70686400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:70672600-70686600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:70672800-70686600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:70673000-70677600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:70673000-70677800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:70673000-70680800	Weak transcription	Esophagus	oesophagus
13	chr1:70673000-70680800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:70673000-70681800	Weak transcription	Fetal Kidney	kidney
15	chr1:70673000-70683400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:70673200-70678800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:70673200-70680800	Weak transcription	Fetal Intestine Large	intestine
18	chr1:70673200-70686200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:70673200-70686200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:70673200-70686400	Weak transcription	Brain Substantia Nigra	brain
21	chr1:70673200-70686400	Weak transcription	HSMMtube	muscle
22	chr1:70673200-70686600	Weak transcription	NH-A	brain
23	chr1:70673400-70676000	Weak transcription	Right Atrium	heart
24	chr1:70673400-70676200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:70673400-70677800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:70673400-70686200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:70673400-70686200	Weak transcription	HMEC	breast
28	chr1:70673400-70686400	Weak transcription	Fetal Brain Male	brain
29	chr1:70673400-70686600	Weak transcription	A549	lung
30	chr1:70673600-70676400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:70673600-70676400	Strong transcription	NHEK	skin
32	chr1:70673600-70677800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:70673600-70686400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:70673800-70676000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr1:70673800-70676400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:70673800-70676400	Strong transcription	Fetal Intestine Small	intestine
37	chr1:70673800-70676400	Strong transcription	Fetal Stomach	stomach
38	chr1:70673800-70680800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:70673800-70681400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:70673800-70686000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:70673800-70686600	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:70673800-70687200	Weak transcription	Small Intestine	intestine
43	chr1:70674200-70676000	Weak transcription	Gastric	stomach
44	chr1:70674200-70676000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:70674200-70676000	Weak transcription	K562	blood
46	chr1:70674200-70677800	Genic enhancers	Dnd41	blood
47	chr1:70674200-70681000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:70674200-70681400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:70674200-70685800	Weak transcription	Right Ventricle	heart
50	chr1:70674200-70686600	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links