Variant report

Variant	rs72926311
Chromosome Location	chr4:129230274-129230275
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129215849..129218784-chr4:129229247..129231536,2	K562	blood:
2	chr4:129228838..129233449-chr4:129235389..129238909,4	K562	blood:
3	chr4:129209612..129211427-chr4:129229157..129231025,2	MCF-7	breast:
4	chr4:129219620..129222089-chr4:129229392..129231973,2	K562	blood:
5	chr4:129228838..129231737-chr4:129235389..129238186,3	K562	blood:
6	chr4:129207824..129213025-chr4:129228843..129234076,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72926306	0.81[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129210200-129230400	Weak transcription	Ovary	ovary
2	chr4:129210200-129245800	Weak transcription	Esophagus	oesophagus
3	chr4:129210400-129231000	Weak transcription	HSMMtube	muscle
4	chr4:129210400-129231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:129210400-129235800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:129210400-129238000	Weak transcription	Thymus	Thymus
7	chr4:129210400-129240000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:129210400-129246400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:129210400-129247600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:129210600-129231000	Weak transcription	Osteobl	bone
11	chr4:129210600-129249800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr4:129210800-129230400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:129210800-129233000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr4:129211000-129231000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:129211000-129244200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr4:129211000-129246400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr4:129211200-129231200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:129211200-129244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:129211200-129248200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:129211200-129254400	Weak transcription	Brain Substantia Nigra	brain
21	chr4:129211400-129231200	Weak transcription	A549	lung
22	chr4:129216600-129231400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:129218800-129230400	Weak transcription	Colonic Mucosa	Colon
24	chr4:129218800-129235200	Weak transcription	Placenta	Placenta
25	chr4:129219000-129231400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:129219800-129230800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:129221000-129231400	Weak transcription	Brain Anterior Caudate	brain
28	chr4:129221600-129247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:129222200-129264200	Weak transcription	Fetal Thymus	thymus
30	chr4:129223200-129244000	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:129223400-129231200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:129224200-129231400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:129224400-129231200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:129224800-129231400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:129225000-129231000	Weak transcription	Hela-S3	cervix
36	chr4:129225200-129231000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr4:129225200-129231400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:129225200-129252200	Weak transcription	Spleen	Spleen
39	chr4:129226200-129233800	Enhancers	Fetal Intestine Large	intestine
40	chr4:129226200-129233800	Enhancers	Fetal Intestine Small	intestine
41	chr4:129226600-129236800	Weak transcription	Primary T cells from cord blood	blood
42	chr4:129226600-129244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:129226800-129231200	Weak transcription	HUVEC	blood vessel
44	chr4:129226800-129231400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:129226800-129232000	Enhancers	K562	blood
46	chr4:129226800-129236600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr4:129226800-129243000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:129226800-129244200	Weak transcription	Primary B cells from cord blood	blood
49	chr4:129227400-129243000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr4:129227600-129231200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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