Variant report

Variant	rs7604933
Chromosome Location	chr2:172706309-172706310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172692494..172694148-chr2:172705814..172708790,3	K562	blood:
2	chr2:172698622..172703344-chr2:172704675..172709046,4	K562	blood:
3	chr2:172701109..172703574-chr2:172703863..172706321,3	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10179020	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10191399	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10196521	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10432474	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10930496	0.80[AFR][1000 genomes]
rs1105264	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11903123	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12467010	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12479374	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12617265	0.81[AFR][1000 genomes]
rs12619137	0.86[AFR][1000 genomes]
rs12692977	0.84[AFR][1000 genomes]
rs13399316	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1400816	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1878583	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1996425	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2056202	0.83[AFR][1000 genomes]
rs2138873	0.85[AFR][1000 genomes]
rs2292813	0.82[AMR][1000 genomes]
rs2357206	0.83[AFR][1000 genomes]
rs2357207	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2357208	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28372952	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2884123	0.83[AFR][1000 genomes]
rs3770443	0.84[EUR][1000 genomes]
rs3770444	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3770457	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3821092	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3821094	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3821096	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4507064	0.82[AMR][1000 genomes]
rs4668415	0.83[AFR][1000 genomes]
rs4668416	0.86[AFR][1000 genomes]
rs4668417	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60706248	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6433313	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6433315	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6433316	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6433317	0.89[AFR][1000 genomes]
rs6433318	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6708365	0.86[AFR][1000 genomes]
rs6711813	0.83[AFR][1000 genomes]
rs6726991	0.86[AFR][1000 genomes]
rs6727459	0.83[AFR][1000 genomes]
rs6736159	0.85[AFR][1000 genomes]
rs6742905	0.84[EUR][1000 genomes]
rs6753859	0.83[EUR][1000 genomes]
rs7580232	0.84[AFR][1000 genomes]
rs7583860	0.84[AFR][1000 genomes]
rs7588025	0.89[AFR][1000 genomes]
rs7597525	0.83[EUR][1000 genomes]
rs925881	0.82[AFR][1000 genomes]
rs949548	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]

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	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
5	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172689400-172712200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:172690200-172720600	Weak transcription	Gastric	stomach
3	chr2:172690200-172721000	Weak transcription	Aorta	Aorta
4	chr2:172690200-172750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:172690600-172712000	Weak transcription	Hela-S3	cervix
6	chr2:172691400-172738600	Weak transcription	Esophagus	oesophagus
7	chr2:172692200-172714400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:172692200-172733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:172693200-172728000	Weak transcription	Colonic Mucosa	Colon
10	chr2:172693400-172711800	Weak transcription	HSMMtube	muscle
11	chr2:172693400-172713200	Weak transcription	NH-A	brain
12	chr2:172693400-172734800	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:172693600-172708200	Weak transcription	Fetal Heart	heart
14	chr2:172693600-172709000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:172693600-172712200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:172693600-172712200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:172693600-172713200	Weak transcription	Fetal Brain Male	brain
18	chr2:172693600-172724200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:172693600-172734400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:172693600-172734600	Weak transcription	HSMM	muscle
21	chr2:172693800-172708800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:172693800-172710200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:172693800-172710400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:172693800-172710400	Weak transcription	A549	lung
25	chr2:172693800-172711800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:172693800-172712000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:172693800-172715000	Weak transcription	NHLF	lung
28	chr2:172693800-172719000	Weak transcription	Psoas Muscle	Psoas
29	chr2:172693800-172720600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:172693800-172721000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:172693800-172721000	Weak transcription	Spleen	Spleen
32	chr2:172693800-172725800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr2:172693800-172727000	Weak transcription	Fetal Kidney	kidney
34	chr2:172693800-172732600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:172693800-172734600	Weak transcription	Right Ventricle	heart
36	chr2:172694000-172708400	Weak transcription	NHDF-Ad	bronchial
37	chr2:172694000-172711200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:172694000-172712400	Weak transcription	K562	blood
39	chr2:172694000-172724200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:172694000-172724200	Weak transcription	Brain Germinal Matrix	brain
41	chr2:172694000-172732800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:172694000-172734600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:172694000-172734600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr2:172694600-172707400	Weak transcription	HepG2	liver
45	chr2:172694600-172720800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:172694800-172714600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:172698400-172707600	Weak transcription	Ovary	ovary
48	chr2:172698400-172708400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:172698400-172709000	Weak transcription	Fetal Thymus	thymus
50	chr2:172698600-172707400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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