Variant report

Variant	rs72699055
Chromosome Location	chr1:113069979-113069980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:113069885-113070335	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr1:113069769-113070438	SK-N-SH	brain:	n/a	n/a
3	ESR1	chr1:113069891-113070215	ECC-1	luminal epithelium:	n/a	n/a
4	TEAD4	chr1:113069861-113070215	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFIC	chr1:113069743-113070381	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr1:113069793-113070496	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr1:113069821-113070616	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr1:113069920-113070263	SK-N-SH	brain:	n/a	n/a
9	EP300	chr1:113069785-113070411	SK-N-SH	brain:	n/a	n/a
10	GATA3	chr1:113069774-113070426	SK-N-SH	brain:	n/a	n/a
11	MAX	chr1:113069956-113070258	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF12	chr1:113069801-113070520	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr1:113069823-113070425	SK-N-SH	brain:	n/a	n/a
14	MAX	chr1:113069855-113070550	SK-N-SH	brain:	n/a	n/a
15	ESR1	chr1:113069791-113070174	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr1:113069829-113070572	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ST7L	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72699056	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72699075	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113052000-113082600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:113052200-113093200	Weak transcription	Brain Substantia Nigra	brain
3	chr1:113055800-113085200	Weak transcription	Thymus	Thymus
4	chr1:113058400-113086600	Weak transcription	A549	lung
5	chr1:113058800-113119400	Weak transcription	HepG2	liver
6	chr1:113059200-113071600	Weak transcription	Hela-S3	cervix
7	chr1:113060200-113132400	Weak transcription	Pancreas	Pancrea
8	chr1:113060400-113070400	Weak transcription	HMEC	breast
9	chr1:113061200-113072200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:113061400-113081200	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:113062400-113117400	Weak transcription	Psoas Muscle	Psoas
12	chr1:113063400-113092400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:113064400-113132200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:113064600-113071000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:113065000-113092400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:113065200-113114800	Weak transcription	Small Intestine	intestine
17	chr1:113065400-113114600	Weak transcription	Fetal Brain Male	brain
18	chr1:113065600-113070200	Weak transcription	Fetal Kidney	kidney
19	chr1:113065800-113071000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:113065800-113086200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:113066000-113070000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:113066000-113088800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:113066000-113114600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:113066000-113132200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:113066200-113070200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:113066200-113114400	Weak transcription	Dnd41	blood
27	chr1:113066400-113070600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:113066600-113081200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr1:113066800-113070200	Strong transcription	Brain Cingulate Gyrus	brain
30	chr1:113066800-113070600	Strong transcription	Placenta	Placenta
31	chr1:113066800-113071000	Strong transcription	Brain Germinal Matrix	brain
32	chr1:113066800-113071800	Strong transcription	Liver	Liver
33	chr1:113066800-113072800	Strong transcription	Fetal Muscle Leg	muscle
34	chr1:113067000-113070200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:113067000-113070400	Strong transcription	Fetal Intestine Small	intestine
36	chr1:113067000-113070600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:113067000-113070800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:113067000-113070800	Strong transcription	Fetal Brain Female	brain
39	chr1:113067000-113071000	Strong transcription	Adipose Nuclei	Adipose
40	chr1:113067000-113083800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:113067000-113117400	Weak transcription	Fetal Thymus	thymus
42	chr1:113067200-113070600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:113067400-113070400	Weak transcription	Colonic Mucosa	Colon
44	chr1:113067400-113070400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:113067400-113070600	Strong transcription	Fetal Stomach	stomach
46	chr1:113067400-113071000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:113067600-113070600	Strong transcription	Esophagus	oesophagus
48	chr1:113067600-113070800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr1:113067600-113071000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:113067600-113071200	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links