Variant report

Variant	rs72905051
Chromosome Location	chr4:99830679-99830680
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99821499..99832064-chr4:99845860..99851281,12	MCF-7	breast:
2	chr4:99830466..99832441-chr4:99915754..99918294,2	K562	blood:

Variant related genes	Relation type
ENSG00000238449	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000164024	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs6833875	1.00[AFR][1000 genomes]
rs6846054	0.95[AFR][1000 genomes]
rs72893508	0.82[AFR][1000 genomes]
rs72893532	1.00[AFR][1000 genomes]
rs72893536	1.00[AFR][1000 genomes]
rs72893542	1.00[AFR][1000 genomes]
rs72893550	1.00[AFR][1000 genomes]
rs72893554	1.00[AFR][1000 genomes]
rs72893558	1.00[AFR][1000 genomes]
rs72905040	1.00[AFR][1000 genomes]
rs72905078	1.00[AFR][1000 genomes]
rs72905084	1.00[AFR][1000 genomes]
rs72905087	0.82[AFR][1000 genomes]
rs72906974	0.95[AFR][1000 genomes]
rs72906977	0.95[AFR][1000 genomes]
rs72906984	0.95[AFR][1000 genomes]
rs72906987	0.95[AFR][1000 genomes]
rs72909404	0.86[AFR][1000 genomes]
rs72909452	0.82[AFR][1000 genomes]
rs72909467	0.82[AFR][1000 genomes]
rs7669447	0.82[AFR][1000 genomes]
rs7672509	0.82[AFR][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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv879655	chr4:99783733-99843113	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
2	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:99804600-99838400	Weak transcription	Esophagus	oesophagus
4	chr4:99805200-99832000	Weak transcription	Spleen	Spleen
5	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
6	chr4:99807800-99832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:99808000-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:99808600-99849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:99815800-99848200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr4:99816600-99831200	Weak transcription	Brain Anterior Caudate	brain
11	chr4:99816600-99847200	Weak transcription	Fetal Brain Male	brain
12	chr4:99817000-99830800	Weak transcription	Brain Germinal Matrix	brain
13	chr4:99819000-99831000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:99822800-99831800	Weak transcription	Fetal Stomach	stomach
15	chr4:99823000-99835600	Weak transcription	Adipose Nuclei	Adipose
16	chr4:99823000-99836000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:99823000-99841600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:99823000-99842600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:99823000-99845600	Weak transcription	Hela-S3	cervix
20	chr4:99823000-99847200	Weak transcription	Thymus	Thymus
21	chr4:99823000-99848800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:99823000-99849000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:99823000-99849200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:99823200-99830800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:99823200-99831000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:99823200-99831600	Weak transcription	Fetal Lung	lung
27	chr4:99823200-99839600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr4:99823200-99847800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:99823200-99848000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:99823200-99848600	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:99823200-99848800	Weak transcription	Placenta	Placenta
32	chr4:99824200-99846800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:99825200-99832200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr4:99825200-99832400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr4:99825200-99841400	Weak transcription	Psoas Muscle	Psoas
36	chr4:99825400-99830800	Weak transcription	Right Atrium	heart
37	chr4:99825400-99831200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:99825800-99831800	Weak transcription	Pancreas	Pancrea
39	chr4:99825800-99837200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:99826000-99831800	Weak transcription	Lung	lung
41	chr4:99826400-99832200	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr4:99826600-99831200	Genic enhancers	K562	blood
43	chr4:99826800-99831200	Strong transcription	Dnd41	blood
44	chr4:99827000-99831000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:99827000-99841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr4:99827000-99848200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:99827200-99831000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:99827200-99832400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr4:99827200-99846000	Weak transcription	Fetal Intestine Large	intestine
50	chr4:99827400-99831800	Weak transcription	NHLF	lung

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