Variant report

Variant	rs10204442
Chromosome Location	chr2:171956808-171956809
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
ENSG00000198586	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10168109	1.00[EUR][1000 genomes]
rs10173304	1.00[EUR][1000 genomes]
rs10174275	1.00[EUR][1000 genomes]
rs10754976	1.00[EUR][1000 genomes]
rs10803856	1.00[EUR][1000 genomes]
rs10930452	1.00[EUR][1000 genomes]
rs12621215	1.00[EUR][1000 genomes]
rs13382924	1.00[EUR][1000 genomes]
rs13385649	1.00[EUR][1000 genomes]
rs13395368	1.00[EUR][1000 genomes]
rs13408916	1.00[EUR][1000 genomes]
rs13415374	1.00[EUR][1000 genomes]
rs13417630	1.00[EUR][1000 genomes]
rs13418838	1.00[EUR][1000 genomes]
rs13422667	1.00[EUR][1000 genomes]
rs13426912	1.00[EUR][1000 genomes]
rs13428121	1.00[EUR][1000 genomes]
rs1863773	1.00[EUR][1000 genomes]
rs2033161	1.00[EUR][1000 genomes]
rs2052809	1.00[EUR][1000 genomes]
rs2059722	1.00[EUR][1000 genomes]
rs2217151	1.00[EUR][1000 genomes]
rs2217184	1.00[EUR][1000 genomes]
rs2247657	1.00[EUR][1000 genomes]
rs2356372	1.00[EUR][1000 genomes]
rs2555919	1.00[EUR][1000 genomes]
rs2555920	1.00[EUR][1000 genomes]
rs2555921	1.00[EUR][1000 genomes]
rs2555923	1.00[EUR][1000 genomes]
rs2555924	1.00[EUR][1000 genomes]
rs2555925	1.00[EUR][1000 genomes]
rs2555927	1.00[EUR][1000 genomes]
rs2557800	1.00[EUR][1000 genomes]
rs2557801	1.00[EUR][1000 genomes]
rs2557805	1.00[EUR][1000 genomes]
rs2676129	1.00[EUR][1000 genomes]
rs2676134	1.00[EUR][1000 genomes]
rs2676135	1.00[EUR][1000 genomes]
rs2676146	1.00[EUR][1000 genomes]
rs2676148	1.00[EUR][1000 genomes]
rs2723237	1.00[EUR][1000 genomes]
rs2723244	1.00[EUR][1000 genomes]
rs2723246	1.00[EUR][1000 genomes]
rs2723247	1.00[EUR][1000 genomes]
rs28499279	1.00[EUR][1000 genomes]
rs28641775	1.00[EUR][1000 genomes]
rs4027753	1.00[EUR][1000 genomes]
rs4668366	1.00[EUR][1000 genomes]
rs4668367	1.00[EUR][1000 genomes]
rs6433274	1.00[EUR][1000 genomes]
rs6433279	1.00[EUR][1000 genomes]
rs6433280	1.00[EUR][1000 genomes]
rs6721080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6722314	1.00[EUR][1000 genomes]
rs6732108	1.00[EUR][1000 genomes]
rs6735986	1.00[EUR][1000 genomes]
rs6749884	1.00[EUR][1000 genomes]
rs6751462	1.00[EUR][1000 genomes]
rs6761606	1.00[EUR][1000 genomes]
rs73027301	1.00[EUR][1000 genomes]
rs7560590	1.00[EUR][1000 genomes]
rs7582081	1.00[EUR][1000 genomes]
rs7584937	1.00[EUR][1000 genomes]
rs964171	1.00[EUR][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:85 , 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	chr2:171943400-171959600	Weak transcription	Left Ventricle	heart
6	chr2:171943400-171973800	Weak transcription	NH-A	brain
7	chr2:171944800-171977400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:171946400-171957000	Weak transcription	Pancreas	Pancrea
9	chr2:171949200-171973200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:171950600-171972000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:171950600-171991200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:171952800-171959000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:171953400-171957200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:171953400-171957400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr2:171953400-171957600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr2:171953400-171957600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:171953400-171957600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:171953400-171959600	ZNF genes & repeats	GM12878-XiMat	blood
19	chr2:171953600-171957200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:171953600-171957600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:171954000-171957000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr2:171954200-171957000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr2:171954400-171957000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr2:171954400-171957200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:171954400-171970400	Weak transcription	Hela-S3	cervix
26	chr2:171954600-171957200	ZNF genes & repeats	K562	blood
27	chr2:171954600-171957400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:171954600-171973400	Weak transcription	Small Intestine	intestine
29	chr2:171954600-171987200	Weak transcription	Fetal Stomach	stomach
30	chr2:171955000-171957600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr2:171955200-171957200	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr2:171955200-171957600	ZNF genes & repeats	Dnd41	blood
33	chr2:171955400-171957400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:171955600-171973200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:171955800-171957200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr2:171955800-171957400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
37	chr2:171955800-171980800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:171956000-171957000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
39	chr2:171956000-171957200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:171956000-171957600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:171956000-171957600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr2:171956200-171957000	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr2:171956200-171957000	Strong transcription	Placenta	Placenta
44	chr2:171956400-171957200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:171956400-171957600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:171956400-171958600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr2:171956400-171980200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:171956600-171957000	ZNF genes & repeats	HepG2	liver
49	chr2:171956600-171957200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr2:171956600-171957200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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