Variant report

Variant	rs10252396
Chromosome Location	chr7:96321108-96321109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:96319723..96321429-chr7:96337705..96340403,2	K562	blood:
2	chr7:96320853..96322632-chr7:96329735..96331820,2	MCF-7	breast:
3	chr7:96320285..96322353-chr7:96328349..96331137,2	K562	blood:
4	chr7:96318778..96321223-chr7:96336836..96339205,2	K562	blood:

Variant related genes	Relation type
ENSG00000127922	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10226466	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10234669	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10236162	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10242066	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10246774	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10249910	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10259875	1.00[EUR][1000 genomes]
rs10270175	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10270486	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10273237	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10276660	1.00[EUR][1000 genomes]
rs10278521	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1581538	0.95[EUR][1000 genomes]
rs1608739	0.95[EUR][1000 genomes]
rs17167680	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17167699	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17413240	0.93[EUR][1000 genomes]
rs17495340	0.86[EUR][1000 genomes]
rs1917482	0.95[EUR][1000 genomes]
rs2140741	0.95[EUR][1000 genomes]
rs2272	1.00[EUR][1000 genomes]
rs3942589	1.00[EUR][1000 genomes]
rs55902035	1.00[EUR][1000 genomes]
rs67368115	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67548673	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67658953	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73228327	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73228328	0.95[EUR][1000 genomes]
rs73228329	0.95[EUR][1000 genomes]
rs73228347	1.00[EUR][1000 genomes]
rs73228355	1.00[EUR][1000 genomes]
rs73228356	1.00[EUR][1000 genomes]
rs73228360	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73228364	0.93[EUR][1000 genomes]
rs7341440	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs952005	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888756	chr7:95937098-96343665	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv532174	chr7:96221237-96375826	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv831065	chr7:96275832-96436031	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96284400-96331200	Weak transcription	Lung	lung
2	chr7:96294000-96331200	Weak transcription	Esophagus	oesophagus
3	chr7:96295200-96326000	Weak transcription	Brain Angular Gyrus	brain
4	chr7:96295600-96323200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:96298200-96330600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:96299000-96337400	Weak transcription	NHLF	lung
7	chr7:96300000-96337600	Weak transcription	NH-A	brain
8	chr7:96300200-96337000	Weak transcription	Fetal Kidney	kidney
9	chr7:96301200-96323800	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:96301800-96325400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:96302200-96325400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:96302200-96337800	Weak transcription	Thymus	Thymus
13	chr7:96302400-96325400	Weak transcription	Brain Substantia Nigra	brain
14	chr7:96303200-96337400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:96303200-96338000	Weak transcription	Aorta	Aorta
16	chr7:96303200-96338200	Weak transcription	Gastric	stomach
17	chr7:96305200-96330600	Weak transcription	Left Ventricle	heart
18	chr7:96305600-96324400	Weak transcription	Ovary	ovary
19	chr7:96306200-96323400	Weak transcription	HUVEC	blood vessel
20	chr7:96309200-96337200	Weak transcription	Brain Anterior Caudate	brain
21	chr7:96309400-96325600	Weak transcription	Brain Hippocampus Middle	brain
22	chr7:96309400-96330400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:96309600-96337200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:96311000-96338400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:96311400-96338000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:96312200-96337600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:96313400-96338000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:96314200-96337800	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:96314800-96336200	Weak transcription	Fetal Brain Female	brain
30	chr7:96315600-96334000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:96315800-96322000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:96315800-96322600	Weak transcription	HMEC	breast
33	chr7:96315800-96326400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr7:96316000-96321800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr7:96316000-96324600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:96316000-96337800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:96316400-96337000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:96316600-96325000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:96317000-96322000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:96317200-96321200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:96317200-96322200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:96317200-96322200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr7:96317200-96322200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr7:96317200-96322400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr7:96317200-96323600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:96317200-96323600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:96317200-96324000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:96317200-96324200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:96317200-96324400	Strong transcription	Primary B cells from cord blood	blood
50	chr7:96317200-96324600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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