Variant report

Variant	rs550512229
Chromosome Location	chr2:172691846-172691847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172690978..172693362-chr2:172778246..172780451,2	K562	blood:
2	chr2:172690324..172692535-chr2:172778951..172781144,3	K562	blood:

Variant related genes	Relation type
ENSG00000128708	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv583611	chr2:172683481-172750257	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1006214	chr2:172691689-172754296	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv536036	chr2:172691689-172754296	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172681000-172695000	Weak transcription	Pancreas	Pancrea
2	chr2:172681800-172693800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:172682000-172694000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr2:172683400-172693800	Strong transcription	Stomach Smooth Muscle	stomach
5	chr2:172683400-172694400	Strong transcription	Primary T cells from cord blood	blood
6	chr2:172683600-172693800	Strong transcription	Left Ventricle	heart
7	chr2:172683800-172694200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:172684400-172694000	Strong transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:172685600-172693000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:172685600-172694600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:172685600-172694800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:172685800-172694000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:172686000-172694000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:172686200-172698800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:172686800-172693600	Strong transcription	Colon Smooth Muscle	Colon
16	chr2:172687000-172694600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr2:172687200-172692200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:172687200-172693600	Strong transcription	Rectal Smooth Muscle	rectum
19	chr2:172687200-172694000	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:172687400-172693200	Strong transcription	Colonic Mucosa	Colon
21	chr2:172687400-172693400	Strong transcription	HSMMtube	muscle
22	chr2:172687400-172693800	Strong transcription	Brain Anterior Caudate	brain
23	chr2:172687400-172693800	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr2:172687400-172693800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:172687400-172694000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:172687400-172694000	Strong transcription	Brain Cingulate Gyrus	brain
27	chr2:172687400-172694000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:172687400-172694000	Strong transcription	K562	blood
29	chr2:172687600-172693400	Strong transcription	Brain Hippocampus Middle	brain
30	chr2:172687600-172693600	Strong transcription	Adipose Nuclei	Adipose
31	chr2:172687600-172693800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:172687600-172693800	Strong transcription	Brain Angular Gyrus	brain
33	chr2:172688000-172693800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:172688400-172692200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:172688400-172693800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:172688400-172694000	Strong transcription	Fetal Thymus	thymus
37	chr2:172688800-172693200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:172688800-172693800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:172688800-172693800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:172689000-172693600	Strong transcription	Placenta	Placenta
41	chr2:172689000-172694600	Strong transcription	HUVEC	blood vessel
42	chr2:172689000-172696400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr2:172689400-172692200	Strong transcription	Osteobl	bone
44	chr2:172689400-172692800	Weak transcription	Brain Substantia Nigra	brain
45	chr2:172689400-172693600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:172689400-172693800	Strong transcription	A549	lung
47	chr2:172689400-172693800	Strong transcription	NHLF	lung
48	chr2:172689400-172712200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr2:172689600-172694000	Strong transcription	Brain Germinal Matrix	brain
50	chr2:172689600-172694000	Strong transcription	Fetal Brain Female	brain

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