Variant report

Variant	rs2693731
Chromosome Location	chr7:129422315-129422316
allele	C/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129420506..129423623-chr7:129440322..129443284,4	K562	blood:
2	chr7:129420277..129422355-chr7:129690928..129692656,2	MCF-7	breast:
3	chr7:129419635..129422610-chr7:129468261..129471456,4	MCF-7	breast:
4	chr7:129418555..129422595-chr7:129463586..129466468,3	K562	blood:
5	chr7:129418686..129423959-chr7:129438384..129442719,6	MCF-7	breast:
6	chr7:129250454..129252812-chr7:129420975..129422937,2	K562	blood:
7	chr7:129322657..129325540-chr7:129420141..129423047,2	MCF-7	breast:
8	chr7:129288674..129290633-chr7:129421581..129423638,2	K562	blood:
9	chr7:129415990..129422927-chr7:129459994..129470946,26	MCF-7	breast:
10	chr7:129417027..129423271-chr7:129428076..129437839,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106459	Chromatin interaction
ENSG00000091732	Chromatin interaction
ENSG00000273329	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2693735	1.00[AMR][1000 genomes]
rs2693736	1.00[AMR][1000 genomes]
rs2727473	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813824	chr7:129379450-129424461	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
2	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
3	nsv516024	chr7:129387380-129444951	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
4	esv1817678	chr7:129394447-129424461	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
5	nsv464721	chr7:129397644-129444951	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
6	nsv608420	chr7:129397644-129444951	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
7	esv1808977	chr7:129402158-129424461	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
8	esv1828133	chr7:129403541-129437113	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
9	esv1843969	chr7:129403541-129446598	Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
10	esv1802311	chr7:129406936-129442389	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129418000-129423400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:129418200-129422600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr7:129418600-129423400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr7:129420000-129423400	Bivalent Enhancer	Spleen	Spleen
5	chr7:129420200-129422400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
6	chr7:129420400-129422400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:129420600-129422600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:129420600-129423000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:129420600-129423000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:129420600-129423000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
11	chr7:129420600-129423200	Bivalent Enhancer	Left Ventricle	heart
12	chr7:129420600-129423600	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr7:129420800-129422400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:129420800-129422600	Enhancers	Lung	lung
15	chr7:129420800-129422800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
16	chr7:129420800-129423000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:129420800-129423200	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr7:129420800-129423200	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr7:129420800-129423200	Bivalent Enhancer	Placenta	Placenta
20	chr7:129420800-129423200	Enhancers	Gastric	stomach
21	chr7:129420800-129423400	Bivalent Enhancer	Fetal Stomach	stomach
22	chr7:129420800-129423600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:129420800-129424800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr7:129420800-129426200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr7:129421000-129422400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
26	chr7:129421000-129423400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr7:129421000-129423400	Bivalent Enhancer	Fetal Heart	heart
28	chr7:129421000-129423600	Bivalent Enhancer	Liver	Liver
29	chr7:129421000-129425600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr7:129421200-129422800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr7:129421200-129423000	Weak transcription	Right Atrium	heart
32	chr7:129421200-129423200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
33	chr7:129421200-129423400	Bivalent Enhancer	Fetal Thymus	thymus
34	chr7:129421200-129427400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr7:129421400-129422400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr7:129421400-129422600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:129421400-129422600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:129421400-129423200	Bivalent Enhancer	HMEC	breast
39	chr7:129421400-129423400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
40	chr7:129421600-129422400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:129421600-129422400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr7:129421600-129422600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:129421600-129422600	Bivalent Enhancer	Small Intestine	intestine
44	chr7:129421600-129422800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
45	chr7:129421600-129422800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
46	chr7:129421600-129424600	Weak transcription	K562	blood
47	chr7:129421600-129425400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr7:129421800-129423000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
49	chr7:129421800-129423000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:129421800-129423000	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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