Variant report

Variant	rs73029222
Chromosome Location	chr2:171956694-171956695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171954741..171957887-chr2:172015492..172018537,3	K562	blood:
2	chr2:171955097..171957598-chr2:171961412..171963056,2	K562	blood:
3	chr2:171954918..171957257-chr2:172289935..172292080,2	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000198586	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2723236	0.81[AFR][1000 genomes]
rs73027263	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
2	chr2:171916600-171970800	Weak transcription	Ovary	ovary
3	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:171933200-171981000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:171937600-171956800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:171943400-171959600	Weak transcription	Left Ventricle	heart
7	chr2:171943400-171973800	Weak transcription	NH-A	brain
8	chr2:171944800-171977400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:171946400-171957000	Weak transcription	Pancreas	Pancrea
10	chr2:171949200-171973200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:171950600-171972000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:171950600-171991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:171952800-171959000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:171953400-171957200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:171953400-171957400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
16	chr2:171953400-171957600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
17	chr2:171953400-171957600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:171953400-171957600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:171953400-171959600	ZNF genes & repeats	GM12878-XiMat	blood
20	chr2:171953600-171957200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:171953600-171957600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:171954000-171957000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
23	chr2:171954200-171957000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
24	chr2:171954400-171956800	Weak transcription	Esophagus	oesophagus
25	chr2:171954400-171957000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
26	chr2:171954400-171957200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:171954400-171970400	Weak transcription	Hela-S3	cervix
28	chr2:171954600-171956800	Weak transcription	Fetal Intestine Small	intestine
29	chr2:171954600-171956800	Weak transcription	Fetal Thymus	thymus
30	chr2:171954600-171957200	ZNF genes & repeats	K562	blood
31	chr2:171954600-171957400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:171954600-171973400	Weak transcription	Small Intestine	intestine
33	chr2:171954600-171987200	Weak transcription	Fetal Stomach	stomach
34	chr2:171955000-171957600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr2:171955200-171957200	ZNF genes & repeats	Primary B cells from cord blood	blood
36	chr2:171955200-171957600	ZNF genes & repeats	Dnd41	blood
37	chr2:171955400-171957400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:171955600-171956800	Weak transcription	Fetal Lung	lung
39	chr2:171955600-171973200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:171955800-171957200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr2:171955800-171957400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
42	chr2:171955800-171980800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:171956000-171957000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr2:171956000-171957200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:171956000-171957600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:171956000-171957600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr2:171956200-171957000	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr2:171956200-171957000	Strong transcription	Placenta	Placenta
49	chr2:171956400-171957200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:171956400-171957600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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