Variant report

Variant	rs10232597
Chromosome Location	chr7:138165763-138165764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138156609..138159156-chr7:138163880..138167258,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10216085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224559	0.88[AFR][1000 genomes]
rs10226487	0.88[AFR][1000 genomes]
rs10231698	0.88[AFR][1000 genomes]
rs10234810	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236859	0.88[AFR][1000 genomes]
rs10237069	0.88[AFR][1000 genomes]
rs10237544	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237720	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239129	0.82[AFR][1000 genomes]
rs10239202	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239932	0.88[AFR][1000 genomes]
rs10241288	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241942	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242105	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243069	0.88[AFR][1000 genomes]
rs10245088	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248604	0.88[AFR][1000 genomes]
rs10253989	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254440	0.88[AFR][1000 genomes]
rs10254935	0.85[AFR][1000 genomes]
rs10256094	0.88[AFR][1000 genomes]
rs10256358	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256619	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10259673	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267577	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272478	0.88[AFR][1000 genomes]
rs10277465	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278741	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281487	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1073255	0.88[AFR][1000 genomes]
rs13438570	0.88[AFR][1000 genomes]
rs28380017	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28392567	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28407067	0.88[AFR][1000 genomes]
rs28498774	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28502705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28584756	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	0.88[AFR][1000 genomes]
rs28608602	0.88[AFR][1000 genomes]
rs28673291	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688534	0.88[AFR][1000 genomes]
rs28694658	0.88[AFR][1000 genomes]
rs28706910	1.00[AMR][1000 genomes]
rs28707292	0.88[AFR][1000 genomes]
rs28729263	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28762120	0.85[AFR][1000 genomes]
rs28764878	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28816768	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28822161	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2883144	1.00[AMR][1000 genomes]
rs3847123	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3847124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4329204	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947993	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv981589	chr7:138163846-138177455	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 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	chr7:138147200-138168400	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:138147200-138183800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:138147200-138189000	Weak transcription	Thymus	Thymus
4	chr7:138149800-138188600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:138153800-138166200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:138153800-138184200	Weak transcription	Fetal Stomach	stomach
7	chr7:138154800-138167200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:138155200-138184200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:138157600-138191400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:138157800-138166800	Weak transcription	Right Atrium	heart
11	chr7:138160200-138175000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:138160600-138168400	Weak transcription	Gastric	stomach
13	chr7:138160600-138182200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:138161800-138195800	Weak transcription	Fetal Brain Female	brain
15	chr7:138162000-138175200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:138163400-138165800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr7:138163600-138166200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:138163600-138168200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:138163600-138168600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:138163600-138183400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:138163600-138184000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:138163600-138184200	Weak transcription	Aorta	Aorta
23	chr7:138163600-138184200	Weak transcription	Fetal Thymus	thymus
24	chr7:138163800-138166200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:138163800-138166200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:138163800-138168200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:138163800-138175400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:138164000-138166400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:138164000-138166800	Weak transcription	Fetal Heart	heart
30	chr7:138164000-138191400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr7:138164000-138199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:138164200-138166200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr7:138164200-138166200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:138164200-138167600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:138164200-138167600	Weak transcription	K562	blood
36	chr7:138164200-138167800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr7:138164200-138170000	Weak transcription	Fetal Intestine Large	intestine
38	chr7:138164200-138173400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:138164400-138166600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:138164400-138167600	Weak transcription	Left Ventricle	heart
41	chr7:138164400-138168200	Weak transcription	GM12878-XiMat	blood
42	chr7:138164400-138175400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:138164400-138175400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:138164400-138176800	Weak transcription	Pancreas	Pancrea
45	chr7:138164400-138184200	Weak transcription	Ovary	ovary
46	chr7:138164800-138165800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr7:138164800-138168600	Weak transcription	Lung	lung
48	chr7:138165000-138165800	Weak transcription	Fetal Intestine Small	intestine
49	chr7:138165000-138166200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr7:138165000-138166600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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