Variant report

Variant	rs4916221
Chromosome Location	chr1:173438109-173438110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173435562..173438278-chr1:173445966..173447922,2	MCF-7	breast:
2	chr1:173437085..173438756-chr1:173445689..173447511,2	MCF-7	breast:
3	chr1:173437373..173440361-chr1:173444583..173446668,3	K562	blood:
4	chr1:173415577..173417279-chr1:173436581..173438176,2	K562	blood:

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10157668	1.00[GIH][hapmap]
rs10158034	1.00[GIH][hapmap]
rs10737302	1.00[GIH][hapmap]
rs12059068	1.00[GIH][hapmap]
rs12065033	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs12081220	1.00[GIH][hapmap]
rs12087885	1.00[GIH][hapmap]
rs16828416	1.00[GIH][hapmap]
rs16846052	1.00[GIH][hapmap]
rs16846173	1.00[GIH][hapmap]
rs16846220	1.00[GIH][hapmap]
rs16846301	1.00[GIH][hapmap]
rs2013387	1.00[GIH][hapmap]
rs34853351	1.00[CHD][hapmap]
rs4354572	1.00[GIH][hapmap]
rs4494170	1.00[GIH][hapmap]
rs60055251	0.87[AMR][1000 genomes]
rs60769229	0.87[AMR][1000 genomes]
rs6663036	0.87[AMR][1000 genomes]
rs6678784	1.00[GIH][hapmap]

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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr1:173419000-173439000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:173423800-173442400	Weak transcription	NH-A	brain
3	chr1:173425200-173442400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:173429400-173439800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:173430400-173439200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:173430400-173442400	Weak transcription	Gastric	stomach
7	chr1:173430400-173442800	Weak transcription	Pancreas	Pancrea
8	chr1:173430400-173444400	Weak transcription	Right Ventricle	heart
9	chr1:173430600-173438800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:173430600-173439000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:173430600-173439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:173430600-173442600	Weak transcription	Aorta	Aorta
13	chr1:173430600-173443200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:173430600-173444400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:173430800-173439400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:173430800-173439800	Weak transcription	Fetal Stomach	stomach
17	chr1:173430800-173445000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:173431000-173438600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:173431000-173438800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:173431000-173439000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:173431000-173439200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr1:173431000-173439600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:173431000-173439600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:173431000-173439600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:173431000-173439800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:173431000-173439800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:173431000-173439800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:173431000-173442400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:173431000-173442400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:173431000-173442400	Weak transcription	Hela-S3	cervix
31	chr1:173431000-173442600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:173431000-173442600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:173431000-173444400	Weak transcription	Left Ventricle	heart
34	chr1:173431200-173439800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:173431200-173439800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr1:173431200-173442400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:173431200-173442800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:173431400-173441200	Weak transcription	HSMM	muscle
39	chr1:173431600-173442400	Weak transcription	Liver	Liver
40	chr1:173432600-173439800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:173432800-173442600	Weak transcription	Fetal Heart	heart
42	chr1:173433000-173439800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:173433000-173442400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:173433200-173444200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:173433400-173442800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:173433800-173440000	Weak transcription	Fetal Lung	lung
47	chr1:173435600-173442800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:173435800-173442000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:173436200-173438200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr1:173436400-173439000	ZNF genes & repeats	Primary T cells from cord blood	blood

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