Variant report

Variant	rs10231698
Chromosome Location	chr7:138246330-138246331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138245855..138248023-chr7:138249211..138253236,3	K562	blood:
2	chr7:138245855..138247730-chr7:138249211..138250756,2	K562	blood:
3	chr7:138243849..138247271-chr7:138261474..138264900,3	K562	blood:
4	chr7:138209195..138211735-chr7:138245939..138248428,2	K562	blood:
5	chr7:138147951..138150009-chr7:138245904..138247724,2	K562	blood:

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

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

rs_ID	r²[population]
rs10216325	1.00[YRI][hapmap]
rs10224063	1.00[AMR][1000 genomes]
rs10224459	0.89[AFR][1000 genomes]
rs10224559	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10226487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227148	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10229259	1.00[AMR][1000 genomes]
rs10229430	1.00[AMR][1000 genomes]
rs10232500	1.00[AMR][1000 genomes]
rs10232597	0.88[AFR][1000 genomes]
rs10234810	0.91[AFR][1000 genomes]
rs10236859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237544	0.87[YRI][hapmap];0.91[AFR][1000 genomes]
rs10237720	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs10239129	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239202	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs10239932	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240387	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10241288	0.87[YRI][hapmap];0.91[AFR][1000 genomes]
rs10241942	0.94[AFR][1000 genomes]
rs10242105	0.94[AFR][1000 genomes]
rs10243069	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245088	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs10248027	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248255	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10248604	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10249171	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs10253989	0.80[AFR][1000 genomes]
rs10254196	1.00[AMR][1000 genomes]
rs10254440	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254935	0.85[AFR][1000 genomes]
rs10256094	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256358	0.94[AFR][1000 genomes]
rs10256619	0.87[YRI][hapmap];0.88[AFR][1000 genomes]
rs10256953	1.00[AMR][1000 genomes]
rs10258403	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10259673	0.83[YRI][hapmap];0.94[AFR][1000 genomes]
rs10261219	1.00[AMR][1000 genomes]
rs10261236	0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262919	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267577	0.87[YRI][hapmap];0.94[AFR][1000 genomes]
rs10268912	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs10272478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274764	1.00[AMR][1000 genomes]
rs10277465	0.94[AFR][1000 genomes]
rs10278741	0.94[AFR][1000 genomes]
rs10281429	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281487	0.94[AFR][1000 genomes]
rs1073255	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11506000	1.00[AMR][1000 genomes]
rs11983193	1.00[AMR][1000 genomes]
rs13438570	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28361932	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28380017	0.89[AFR][1000 genomes]
rs28392567	0.91[AFR][1000 genomes]
rs28407067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28435503	1.00[AMR][1000 genomes]
rs28480333	1.00[AMR][1000 genomes]
rs28498774	0.91[AFR][1000 genomes]
rs28502705	0.94[AFR][1000 genomes]
rs28514575	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534820	0.94[AFR][1000 genomes]
rs28546247	1.00[AMR][1000 genomes]
rs28584756	0.94[AFR][1000 genomes]
rs28593099	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28608602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28653145	1.00[AMR][1000 genomes]
rs28673291	0.91[AFR][1000 genomes]
rs28688534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28691741	1.00[AMR][1000 genomes]
rs28694658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28714460	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28729263	0.91[AFR][1000 genomes]
rs28762120	0.85[AFR][1000 genomes]
rs28764878	0.91[AFR][1000 genomes]
rs28816768	0.91[AFR][1000 genomes]
rs28822161	0.88[AFR][1000 genomes]
rs28824911	1.00[AMR][1000 genomes]
rs28850964	1.00[AMR][1000 genomes]
rs3847123	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs3847124	0.88[YRI][hapmap];0.94[AFR][1000 genomes]
rs4329204	0.88[AFR][1000 genomes]
rs9986844	0.81[AFR][1000 genomes];1.00[AMR][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	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138228400-138252600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:138235000-138248600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:138235000-138257400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:138235800-138253000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:138235800-138253200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr7:138236000-138254200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:138236800-138250800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr7:138237000-138251200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
9	chr7:138237000-138251600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:138237000-138252400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr7:138237200-138252600	ZNF genes & repeats	Dnd41	blood
12	chr7:138237400-138251400	ZNF genes & repeats	Primary B cells from cord blood	blood
13	chr7:138238200-138251200	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr7:138238400-138250800	ZNF genes & repeats	Thymus	Thymus
15	chr7:138238400-138251400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:138238400-138251400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
17	chr7:138238400-138251400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr7:138238400-138253600	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr7:138238600-138251200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:138238600-138251600	ZNF genes & repeats	Brain Germinal Matrix	brain
21	chr7:138238600-138251800	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr7:138238600-138252200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
23	chr7:138239200-138251000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr7:138239400-138251000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr7:138239400-138252600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
26	chr7:138239600-138247000	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr7:138239600-138250800	ZNF genes & repeats	Fetal Brain Female	brain
28	chr7:138241400-138251000	ZNF genes & repeats	Fetal Stomach	stomach
29	chr7:138241400-138251200	ZNF genes & repeats	Placenta	Placenta
30	chr7:138242000-138248200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:138242200-138248600	Strong transcription	Rectal Smooth Muscle	rectum
32	chr7:138242200-138248600	Genic enhancers	HepG2	liver
33	chr7:138242200-138248800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:138242200-138248800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:138242600-138246800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr7:138242600-138247600	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr7:138242600-138248600	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr7:138242600-138272400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:138242800-138246800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:138242800-138247000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:138242800-138247000	Strong transcription	K562	blood
42	chr7:138242800-138251400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr7:138243000-138249000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:138243000-138249400	Strong transcription	Brain Hippocampus Middle	brain
45	chr7:138243200-138246600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:138243200-138246800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:138243200-138248400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:138243200-138248400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:138243200-138248600	Strong transcription	Stomach Smooth Muscle	stomach
50	chr7:138243200-138249000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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