Variant report

Variant	rs10230644
Chromosome Location	chr7:17978007-17978008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:17966773..17969755-chr7:17976526..17979737,3	K562	blood:
2	chr7:17936656..17938399-chr7:17976811..17978659,2	K562	blood:
3	chr7:17967526..17969640-chr7:17977395..17979886,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10228026	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10228344	1.00[AMR][1000 genomes]
rs10229223	1.00[AMR][1000 genomes]
rs10229298	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs10230274	1.00[AMR][1000 genomes]
rs10231119	0.85[AFR][1000 genomes]
rs10231226	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10231837	0.92[YRI][hapmap];0.91[AFR][1000 genomes]
rs10231951	1.00[AMR][1000 genomes]
rs10232014	1.00[AMR][1000 genomes]
rs10232030	1.00[AMR][1000 genomes]
rs10234457	0.91[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237285	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs10238514	1.00[AMR][1000 genomes]
rs10242619	1.00[AMR][1000 genomes]
rs10242951	1.00[AMR][1000 genomes]
rs10244018	1.00[AMR][1000 genomes]
rs10252592	1.00[AMR][1000 genomes]
rs10252726	0.82[AFR][1000 genomes]
rs10258047	0.85[AFR][1000 genomes]
rs10268362	1.00[AMR][1000 genomes]
rs10270181	0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10270757	1.00[AMR][1000 genomes]
rs10274155	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10274669	1.00[AMR][1000 genomes]
rs10274868	1.00[AMR][1000 genomes]
rs10278523	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs10280913	0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10282332	0.82[AFR][1000 genomes]
rs10282571	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11975603	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11978117	1.00[AMR][1000 genomes]
rs17138308	1.00[AMR][1000 genomes]
rs17138311	0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs17138375	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs17138395	0.91[YRI][hapmap]
rs17138405	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs17138418	0.84[YRI][hapmap]
rs17138437	1.00[AMR][1000 genomes]
rs17138450	0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1880456	0.84[YRI][hapmap]
rs28476778	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28566938	1.00[AMR][1000 genomes]
rs28663676	1.00[AMR][1000 genomes]
rs28862893	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59568611	1.00[AMR][1000 genomes]
rs60138005	1.00[AMR][1000 genomes]
rs73308167	1.00[AMR][1000 genomes]
rs73308173	1.00[AMR][1000 genomes]
rs73308184	1.00[AMR][1000 genomes]
rs73310107	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310176	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310185	1.00[AMR][1000 genomes]
rs73310190	1.00[AMR][1000 genomes]
rs73312112	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv830913	chr7:17848480-18034218	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887808	chr7:17920613-18150005	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1018517	chr7:17926468-18127372	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
11	nsv531013	chr7:17970218-18248642	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17961800-17978800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:17962400-17978600	Weak transcription	Aorta	Aorta
3	chr7:17967200-17978800	Weak transcription	Lung	lung
4	chr7:17970600-17978800	Weak transcription	Pancreas	Pancrea
5	chr7:17970800-17978600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:17970800-17978800	Weak transcription	Gastric	stomach
7	chr7:17971800-17978200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr7:17973200-17978800	Weak transcription	Spleen	Spleen
9	chr7:17974200-17978600	Weak transcription	Fetal Thymus	thymus
10	chr7:17975000-17978800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:17975600-17978800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:17975800-17978600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr7:17976400-17978600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr7:17976800-17978400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:17976800-17978600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr7:17977000-17978200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:17977000-17978200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:17977000-17978600	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:17977000-17978600	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr7:17977000-17978600	Enhancers	Fetal Lung	lung
21	chr7:17977200-17978200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:17977200-17978200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:17977200-17978200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:17977200-17978200	Enhancers	HUVEC	blood vessel
25	chr7:17977200-17978400	Enhancers	Stomach Mucosa	stomach
26	chr7:17977200-17978600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr7:17977200-17978800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:17977200-17979400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:17977200-17981400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr7:17977400-17978200	Enhancers	Adipose Nuclei	Adipose
31	chr7:17977400-17978200	Enhancers	Brain Germinal Matrix	brain
32	chr7:17977400-17978400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:17977400-17978400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr7:17977400-17978400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:17977400-17978400	Enhancers	Brain Substantia Nigra	brain
36	chr7:17977400-17978400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:17977400-17978400	Enhancers	Fetal Kidney	kidney
38	chr7:17977400-17978400	Flanking Active TSS	A549	lung
39	chr7:17977400-17978600	Enhancers	Fetal Brain Male	brain
40	chr7:17977400-17978600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr7:17977400-17978600	Flanking Active TSS	NHEK	skin
42	chr7:17977400-17978600	Flanking Active TSS	Osteobl	bone
43	chr7:17977400-17978800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr7:17977400-17978800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:17977400-17978800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:17977400-17979200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:17977400-17979200	Enhancers	Small Intestine	intestine
48	chr7:17977400-17979400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:17977400-17979400	Flanking Active TSS	Dnd41	blood
50	chr7:17977400-17979800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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