Variant report

Variant	rs4672229
Chromosome Location	chr2:58276280-58276281
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	chr2:58274389..58277128-chr2:58466604..58469335,2	K562	blood:
2	chr2:58131028..58133565-chr2:58275828..58277987,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273063	Chromatin interaction
ENSG00000115392	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10172295	0.89[JPT][hapmap]
rs13014613	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1518401	1.00[YRI][hapmap]
rs17049305	1.00[YRI][hapmap]
rs2030237	0.95[JPT][hapmap]
rs4672226	0.95[JPT][hapmap]
rs6717480	0.90[JPT][hapmap]
rs7561688	1.00[YRI][hapmap]
rs7568266	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv582097	chr2:58266099-58346966	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv874201	chr2:58269871-58350504	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv874202	chr2:58269871-58375688	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58272600-58277400	Active TSS	GM12878-XiMat	blood
2	chr2:58274600-58276400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:58274600-58283600	Weak transcription	Gastric	stomach
4	chr2:58274600-58298600	Weak transcription	Spleen	Spleen
5	chr2:58274600-58302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:58274800-58276400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr2:58274800-58282200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:58274800-58296400	Weak transcription	Ovary	ovary
9	chr2:58274800-58296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:58274800-58302200	Weak transcription	Aorta	Aorta
11	chr2:58274800-58317400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:58275000-58276800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:58275000-58278600	Weak transcription	Brain Substantia Nigra	brain
14	chr2:58275000-58280200	Weak transcription	Fetal Lung	lung
15	chr2:58275000-58282000	Weak transcription	Primary T cells from cord blood	blood
16	chr2:58275000-58282200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:58275000-58282200	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:58275000-58282200	Weak transcription	Left Ventricle	heart
19	chr2:58275000-58283800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:58275000-58285000	Weak transcription	Fetal Intestine Large	intestine
21	chr2:58275000-58285000	Weak transcription	Placenta	Placenta
22	chr2:58275000-58285400	Weak transcription	Fetal Thymus	thymus
23	chr2:58275000-58287800	Weak transcription	Fetal Kidney	kidney
24	chr2:58275000-58290800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:58275000-58290800	Weak transcription	Thymus	Thymus
26	chr2:58275000-58291000	Weak transcription	HSMM	muscle
27	chr2:58275000-58297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:58275000-58302600	Weak transcription	Esophagus	oesophagus
29	chr2:58275000-58302800	Weak transcription	Fetal Stomach	stomach
30	chr2:58275000-58305600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:58275000-58317400	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:58275000-58321600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:58275000-58326600	Weak transcription	Pancreas	Pancrea
34	chr2:58275200-58283600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:58275400-58278600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:58275400-58281800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:58275400-58283200	Weak transcription	Adipose Nuclei	Adipose
38	chr2:58275400-58283400	Weak transcription	Primary B cells from cord blood	blood
39	chr2:58275400-58283800	Weak transcription	Right Ventricle	heart
40	chr2:58275400-58290000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:58275400-58290600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:58275400-58290600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr2:58275400-58290800	Weak transcription	Brain Anterior Caudate	brain
44	chr2:58275400-58291000	Weak transcription	NH-A	brain
45	chr2:58275400-58294400	Weak transcription	Fetal Intestine Small	intestine
46	chr2:58275600-58276400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:58275600-58276400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr2:58275600-58276400	Weak transcription	Liver	Liver
49	chr2:58275600-58276400	Enhancers	Dnd41	blood
50	chr2:58275600-58276600	Enhancers	Hela-S3	cervix

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