Variant report

Variant	rs10049718
Chromosome Location	chr4:129223305-129223306
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129211813..129214208-chr4:129223222..129226505,3	MCF-7	breast:
2	chr4:129214305..129216523-chr4:129223305..129226883,3	K562	blood:
3	chr4:129220720..129223666-chr4:129223934..129227037,4	K562	blood:
4	chr4:129215061..129219727-chr4:129220419..129226220,7	K562	blood:
5	chr4:129219938..129223666-chr4:129224445..129227037,3	K562	blood:

Variant related genes	Relation type
ENSG00000251432	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs185993	1.00[EUR][1000 genomes]
rs209981	1.00[EUR][1000 genomes]
rs453871	1.00[EUR][1000 genomes]
rs56317429	1.00[EUR][1000 genomes]
rs73850337	1.00[EUR][1000 genomes]
rs7690872	1.00[EUR][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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129210000-129224400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:129210200-129228600	Weak transcription	Left Ventricle	heart
3	chr4:129210200-129230400	Weak transcription	Ovary	ovary
4	chr4:129210200-129245800	Weak transcription	Esophagus	oesophagus
5	chr4:129210400-129226200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:129210400-129227200	Weak transcription	Pancreas	Pancrea
7	chr4:129210400-129227800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:129210400-129231000	Weak transcription	HSMMtube	muscle
9	chr4:129210400-129231400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:129210400-129235800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:129210400-129238000	Weak transcription	Thymus	Thymus
12	chr4:129210400-129240000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:129210400-129246400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr4:129210400-129247600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:129210600-129231000	Weak transcription	Osteobl	bone
16	chr4:129210600-129249800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:129210800-129226400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:129210800-129227800	Weak transcription	Fetal Brain Male	brain
19	chr4:129210800-129230400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:129210800-129233000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:129211000-129226200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:129211000-129231000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr4:129211000-129244200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr4:129211000-129246400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr4:129211200-129223400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:129211200-129231200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr4:129211200-129244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:129211200-129248200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:129211200-129254400	Weak transcription	Brain Substantia Nigra	brain
30	chr4:129211400-129228200	Weak transcription	GM12878-XiMat	blood
31	chr4:129211400-129228600	Weak transcription	Small Intestine	intestine
32	chr4:129211400-129231200	Weak transcription	A549	lung
33	chr4:129213800-129226400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:129216600-129231400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:129216800-129228400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:129216800-129228600	Weak transcription	Gastric	stomach
37	chr4:129217000-129223400	Weak transcription	Adipose Nuclei	Adipose
38	chr4:129218200-129228200	Weak transcription	Fetal Heart	heart
39	chr4:129218400-129226000	Weak transcription	Primary B cells from cord blood	blood
40	chr4:129218800-129230400	Weak transcription	Colonic Mucosa	Colon
41	chr4:129218800-129235200	Weak transcription	Placenta	Placenta
42	chr4:129219000-129231400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:129219800-129230800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:129220000-129228400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:129220200-129223800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:129220200-129228400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:129220400-129226000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:129220600-129227200	Weak transcription	Stomach Mucosa	stomach
49	chr4:129220800-129224000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:129220800-129228400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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