Variant report

Variant	rs10229430
Chromosome Location	chr7:138154690-138154691
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138144412..138146754-chr7:138152739..138156898,3	MCF-7	breast:
2	chr7:138153717..138155728-chr7:138260624..138263208,2	K562	blood:
3	chr7:138147796..138149894-chr7:138152211..138154703,2	MCF-7	breast:
4	chr7:138151964..138154858-chr7:138178266..138180114,2	K562	blood:
5	chr7:138144089..138146646-chr7:138153808..138155923,2	MCF-7	breast:
6	chr7:138126734..138129179-chr7:138153199..138155161,2	K562	blood:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10224063	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224559	1.00[AMR][1000 genomes]
rs10226487	1.00[AMR][1000 genomes]
rs10227148	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10229259	1.00[AMR][1000 genomes]
rs10231698	1.00[AMR][1000 genomes]
rs10232500	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236859	1.00[AMR][1000 genomes]
rs10237069	1.00[AMR][1000 genomes]
rs10239129	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10239932	1.00[AMR][1000 genomes]
rs10240387	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243069	1.00[AMR][1000 genomes]
rs10248027	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248255	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248604	1.00[AMR][1000 genomes]
rs10249171	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254196	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254440	1.00[AMR][1000 genomes]
rs10256094	1.00[AMR][1000 genomes]
rs10256953	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10258403	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261219	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261236	1.00[AMR][1000 genomes]
rs10262919	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272478	1.00[AMR][1000 genomes]
rs10274764	1.00[AMR][1000 genomes]
rs10281429	1.00[AMR][1000 genomes]
rs1073255	1.00[AMR][1000 genomes]
rs11506000	1.00[AMR][1000 genomes]
rs11983193	1.00[AMR][1000 genomes]
rs13438570	1.00[AMR][1000 genomes]
rs28361932	1.00[AMR][1000 genomes]
rs28407067	1.00[AMR][1000 genomes]
rs28435503	1.00[AMR][1000 genomes]
rs28480333	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28514575	1.00[AMR][1000 genomes]
rs28546247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28593099	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	1.00[AMR][1000 genomes]
rs28608602	1.00[AMR][1000 genomes]
rs28653145	1.00[AMR][1000 genomes]
rs28688534	1.00[AMR][1000 genomes]
rs28691741	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28694658	1.00[AMR][1000 genomes]
rs28707292	1.00[AMR][1000 genomes]
rs28714460	1.00[AMR][1000 genomes]
rs28824911	1.00[AMR][1000 genomes]
rs28850964	1.00[AMR][1000 genomes]
rs9986844	0.82[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	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138146800-138163200	Weak transcription	Aorta	Aorta
2	chr7:138147000-138157200	Weak transcription	Gastric	stomach
3	chr7:138147000-138160200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:138147000-138161400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:138147000-138162200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:138147000-138162400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:138147000-138165000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:138147200-138163200	Weak transcription	Fetal Thymus	thymus
9	chr7:138147200-138168400	Weak transcription	Fetal Muscle Leg	muscle
10	chr7:138147200-138183800	Weak transcription	Primary B cells from cord blood	blood
11	chr7:138147200-138189000	Weak transcription	Thymus	Thymus
12	chr7:138147400-138160000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:138147600-138156000	Weak transcription	HMEC	breast
14	chr7:138147600-138157400	Weak transcription	Right Atrium	heart
15	chr7:138148200-138157200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:138148200-138160200	Weak transcription	Lung	lung
17	chr7:138148200-138163000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr7:138148200-138164200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:138148400-138155200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:138148400-138155400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:138148400-138159400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:138148400-138160200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:138149200-138155200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:138149800-138188600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:138150000-138159400	Weak transcription	Dnd41	blood
26	chr7:138150200-138155000	Weak transcription	Primary T cells from cord blood	blood
27	chr7:138151400-138156000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr7:138151600-138154800	Enhancers	Fetal Heart	heart
29	chr7:138152000-138156600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:138152400-138155400	Weak transcription	Fetal Intestine Large	intestine
31	chr7:138152400-138160200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:138152600-138155600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:138152800-138155000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr7:138153000-138155000	Enhancers	Liver	Liver
35	chr7:138153000-138155800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr7:138153000-138156000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:138153200-138155000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:138153200-138155600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr7:138153400-138155600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:138153400-138155600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr7:138153400-138156000	Strong transcription	K562	blood
42	chr7:138153400-138156200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:138153400-138157400	Genic enhancers	HepG2	liver
44	chr7:138153600-138155200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:138153600-138156000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:138153600-138161400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:138153800-138154800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:138153800-138154800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:138153800-138155000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:138153800-138155000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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