Variant report

Variant	rs10243590
Chromosome Location	chr7:33422149-33422150
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33417630..33419879-chr7:33421037..33423794,2	K562	blood:

Variant related genes	Relation type
ENSG00000238090	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10230991	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10235943	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10236358	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10239609	1.00[YRI][hapmap]
rs10245418	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10250312	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10252552	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10252927	1.00[YRI][hapmap]
rs10252935	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10253352	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10253574	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs10257379	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10259513	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs10259674	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10266641	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10267370	1.00[YRI][hapmap]
rs10270137	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10272446	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10276929	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10951385	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12112737	1.00[EUR][1000 genomes]
rs12333380	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12334131	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12669847	0.81[AFR][1000 genomes]
rs12672071	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12672496	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs28465518	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28478218	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28564487	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28622379	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28673971	0.81[AFR][1000 genomes]
rs3779240	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4298411	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6969260	1.00[YRI][hapmap]
rs6974593	1.00[YRI][hapmap]
rs9785054	1.00[YRI][hapmap];1.00[EUR][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	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv830944	chr7:33389892-33549882	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:33384000-33425400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:33387000-33425200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:33389000-33437400	Weak transcription	Liver	Liver
4	chr7:33392600-33423000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:33394400-33427800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:33403000-33427400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr7:33403400-33437800	Weak transcription	Brain Substantia Nigra	brain
8	chr7:33403800-33430400	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:33404000-33433000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:33405400-33422200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:33405600-33423600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:33406000-33425400	Weak transcription	Primary B cells from cord blood	blood
13	chr7:33406400-33425400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:33407000-33429600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:33408200-33431000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:33408200-33434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:33408600-33434400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:33411800-33431000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:33412000-33423800	Weak transcription	Stomach Mucosa	stomach
20	chr7:33412200-33433200	Weak transcription	Psoas Muscle	Psoas
21	chr7:33413400-33424400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:33413600-33423400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:33417200-33427800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:33417200-33430400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:33417400-33429600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:33418000-33438600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:33418200-33425200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:33418200-33436400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr7:33418400-33424800	Weak transcription	Brain Germinal Matrix	brain
30	chr7:33418600-33434800	Weak transcription	Fetal Kidney	kidney
31	chr7:33418800-33423600	Weak transcription	NHLF	lung
32	chr7:33418800-33429200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:33419000-33436800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:33419600-33427800	Weak transcription	HSMMtube	muscle
35	chr7:33420000-33423800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:33420000-33427600	Weak transcription	HSMM	muscle
37	chr7:33420000-33433200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:33420000-33435000	Weak transcription	Brain Anterior Caudate	brain
39	chr7:33420200-33425200	Weak transcription	Gastric	stomach
40	chr7:33420200-33425400	Weak transcription	Colonic Mucosa	Colon
41	chr7:33420400-33423200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:33420400-33425200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:33420400-33425800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:33420400-33428000	Weak transcription	Thymus	Thymus
45	chr7:33420400-33431800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:33420400-33435000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:33420400-33436400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:33420400-33444600	Weak transcription	Left Ventricle	heart
49	chr7:33420600-33422200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:33420600-33422200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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