Variant report

Variant	rs598962
Chromosome Location	chr1:94916649-94916650
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10399782	1.00[EUR][1000 genomes]
rs10782981	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10874845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1146475	1.00[EUR][1000 genomes]
rs1146478	1.00[EUR][1000 genomes]
rs1146479	1.00[EUR][1000 genomes]
rs1146506	1.00[EUR][1000 genomes]
rs1146516	1.00[EUR][1000 genomes]
rs11801203	1.00[EUR][1000 genomes]
rs11801251	1.00[EUR][1000 genomes]
rs12064943	1.00[EUR][1000 genomes]
rs12065028	1.00[EUR][1000 genomes]
rs12069536	1.00[EUR][1000 genomes]
rs1303136	1.00[EUR][1000 genomes]
rs1318396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1330856	1.00[EUR][1000 genomes]
rs1337856	1.00[EUR][1000 genomes]
rs1337857	1.00[ASW][hapmap];1.00[EUR][1000 genomes]
rs1343483	1.00[EUR][1000 genomes]
rs1361124	1.00[EUR][1000 genomes]
rs1411697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1571645	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1577920	1.00[EUR][1000 genomes]
rs1616972	1.00[EUR][1000 genomes]
rs1617363	1.00[EUR][1000 genomes]
rs1617719	1.00[EUR][1000 genomes]
rs1687921	1.00[EUR][1000 genomes]
rs1687922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687925	1.00[EUR][1000 genomes]
rs1687926	1.00[EUR][1000 genomes]
rs1687929	1.00[EUR][1000 genomes]
rs1687934	1.00[EUR][1000 genomes]
rs1687938	1.00[EUR][1000 genomes]
rs1687939	1.00[EUR][1000 genomes]
rs1687942	1.00[EUR][1000 genomes]
rs1687945	1.00[EUR][1000 genomes]
rs1687953	1.00[EUR][1000 genomes]
rs1687955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687958	1.00[EUR][1000 genomes]
rs1687959	1.00[EUR][1000 genomes]
rs1687960	1.00[EUR][1000 genomes]
rs1687967	1.00[EUR][1000 genomes]
rs1687969	1.00[EUR][1000 genomes]
rs17111347	1.00[EUR][1000 genomes]
rs1747656	1.00[EUR][1000 genomes]
rs1747658	1.00[EUR][1000 genomes]
rs1749540	1.00[EUR][1000 genomes]
rs1756247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1756256	1.00[EUR][1000 genomes]
rs1756258	1.00[EUR][1000 genomes]
rs1756263	1.00[EUR][1000 genomes]
rs1756264	1.00[EUR][1000 genomes]
rs1765616	1.00[EUR][1000 genomes]
rs1765624	1.00[EUR][1000 genomes]
rs1765625	1.00[EUR][1000 genomes]
rs1765631	1.00[EUR][1000 genomes]
rs1765633	1.00[EUR][1000 genomes]
rs1765634	1.00[EUR][1000 genomes]
rs1765638	1.00[EUR][1000 genomes]
rs1765639	1.00[EUR][1000 genomes]
rs1765642	1.00[EUR][1000 genomes]
rs1765653	1.00[EUR][1000 genomes]
rs1772902	1.00[EUR][1000 genomes]
rs1778210	1.00[EUR][1000 genomes]
rs2094824	1.00[ASW][hapmap];1.00[EUR][1000 genomes]
rs2391471	1.00[EUR][1000 genomes]
rs2798944	1.00[EUR][1000 genomes]
rs28494821	1.00[EUR][1000 genomes]
rs2893296	1.00[EUR][1000 genomes]
rs2971948	1.00[EUR][1000 genomes]
rs479627	1.00[EUR][1000 genomes]
rs484420	1.00[EUR][1000 genomes]
rs4847297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4847315	1.00[EUR][1000 genomes]
rs512648	1.00[EUR][1000 genomes]
rs513976	1.00[EUR][1000 genomes]
rs529642	1.00[EUR][1000 genomes]
rs610088	1.00[EUR][1000 genomes]
rs630382	1.00[EUR][1000 genomes]
rs6660037	1.00[EUR][1000 genomes]
rs698945	1.00[EUR][1000 genomes]
rs7417304	1.00[EUR][1000 genomes]
rs768967	1.00[EUR][1000 genomes]
rs860909	1.00[EUR][1000 genomes]
rs9432270	1.00[AMR][1000 genomes];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	nsv871097	chr1:94850443-94941890	Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv546851	chr1:94916649-94941376	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94908600-94918800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:94910600-94928600	Weak transcription	A549	lung
3	chr1:94913800-94974200	Weak transcription	Psoas Muscle	Psoas
4	chr1:94914200-94917600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:94914200-94917800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr1:94914200-94917800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
7	chr1:94914200-94917800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
8	chr1:94914200-94918000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr1:94914200-94918000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
10	chr1:94914200-94918800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:94914200-94951800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:94914400-94917600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
13	chr1:94914400-94918000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
14	chr1:94914400-94918000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr1:94914400-94918000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr1:94914400-94918200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr1:94914400-94918200	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr1:94914400-94918800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:94914400-94918800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr1:94914400-94918800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:94914600-94916800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:94914600-94916800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
23	chr1:94914600-94917400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:94914600-94917600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
25	chr1:94914600-94918000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:94914600-94918000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr1:94914600-94918000	ZNF genes & repeats	Dnd41	blood
28	chr1:94914600-94918800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr1:94914600-94918800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr1:94914600-94918800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr1:94914600-94920000	ZNF genes & repeats	Fetal Intestine Large	intestine
32	chr1:94914800-94916800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:94914800-94916800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr1:94914800-94917600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:94914800-94917600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr1:94914800-94917800	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr1:94914800-94918000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:94914800-94985800	Weak transcription	NHLF	lung
39	chr1:94915400-94929800	Weak transcription	Hela-S3	cervix
40	chr1:94915400-94930400	Weak transcription	Brain Anterior Caudate	brain
41	chr1:94915400-94934000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:94915400-94993200	Weak transcription	HSMMtube	muscle
43	chr1:94915800-94917200	Strong transcription	Liver	Liver
44	chr1:94915800-94918200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:94915800-94924600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:94915800-94925400	Weak transcription	Fetal Kidney	kidney
47	chr1:94915800-94925400	Weak transcription	HMEC	breast
48	chr1:94915800-94929400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:94915800-94930600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:94915800-94935000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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