Variant report

Variant	rs72905040
Chromosome Location	chr4:99824637-99824638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99822851..99824917-chr4:99827424..99830056,2	K562	blood:
2	chr4:99818828..99820512-chr4:99824506..99827559,4	MCF-7	breast:
3	chr4:99822831..99825606-chr4:99842364..99844598,2	K562	blood:
4	chr4:99821499..99832064-chr4:99845860..99851281,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238449	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000151247	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]
rs72905051	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99792400-99825000	Weak transcription	Gastric	stomach
2	chr4:99796000-99826400	Weak transcription	Right Ventricle	heart
3	chr4:99797000-99826600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:99801600-99829400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:99802800-99830200	Weak transcription	Ovary	ovary
6	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
7	chr4:99803000-99825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:99804600-99838400	Weak transcription	Esophagus	oesophagus
10	chr4:99805200-99832000	Weak transcription	Spleen	Spleen
11	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
12	chr4:99807400-99826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:99807800-99832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:99808000-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:99808600-99830600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:99808600-99849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:99812200-99826400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:99813400-99825800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:99815800-99848200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:99816000-99825200	Weak transcription	Small Intestine	intestine
21	chr4:99816600-99824800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:99816600-99826400	Weak transcription	NHDF-Ad	bronchial
23	chr4:99816600-99831200	Weak transcription	Brain Anterior Caudate	brain
24	chr4:99816600-99847200	Weak transcription	Fetal Brain Male	brain
25	chr4:99817000-99825000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:99817000-99825400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:99817000-99830800	Weak transcription	Brain Germinal Matrix	brain
28	chr4:99818200-99825000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:99818400-99825600	Weak transcription	Lung	lung
30	chr4:99819000-99831000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:99819200-99829400	Weak transcription	Fetal Brain Female	brain
32	chr4:99819600-99826400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:99820600-99826800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:99822000-99825200	Strong transcription	K562	blood
35	chr4:99822200-99829800	Weak transcription	A549	lung
36	chr4:99822400-99826600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:99822400-99826600	Weak transcription	HSMMtube	muscle
38	chr4:99822800-99829400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:99822800-99830000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:99822800-99830600	Weak transcription	Left Ventricle	heart
41	chr4:99822800-99831800	Weak transcription	Fetal Stomach	stomach
42	chr4:99823000-99825000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:99823000-99825200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr4:99823000-99826000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr4:99823000-99826600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:99823000-99826600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:99823000-99826600	Weak transcription	Fetal Intestine Large	intestine
48	chr4:99823000-99826600	Weak transcription	NHLF	lung
49	chr4:99823000-99826600	Weak transcription	Osteobl	bone
50	chr4:99823000-99826800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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