Variant report

Variant	rs10248036
Chromosome Location	chr7:66209684-66209685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66204928..66209821-chr7:66213597..66216412,7	MCF-7	breast:
2	chr7:66118228..66120742-chr7:66209055..66211057,2	MCF-7	breast:
3	chr7:66209147..66212594-chr7:66215527..66217393,3	MCF-7	breast:
4	chr7:66204257..66207102-chr7:66209621..66212224,4	MCF-7	breast:
5	chr7:66209588..66211104-chr7:66309557..66311367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243335	Chromatin interaction
ENSG00000226824	Chromatin interaction
ENSG00000271064	Chromatin interaction
ENSG00000272831	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000230583	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10236434	1.00[AMR][1000 genomes]
rs10244204	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10250162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10255498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10266087	1.00[AMR][1000 genomes]
rs10266166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10279154	1.00[EUR][1000 genomes]
rs11980472	1.00[EUR][1000 genomes]
rs28436055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438866	1.00[EUR][1000 genomes]
rs28525579	1.00[EUR][1000 genomes]
rs28619031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28649220	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28671466	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58669678	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58739839	1.00[EUR][1000 genomes]
rs59775164	1.00[EUR][1000 genomes]
rs73700311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73700314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73702140	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv971490	chr7:66192193-66212423	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv970871	chr7:66206610-66210233	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66206400-66216600	Weak transcription	Spleen	Spleen
2	chr7:66206800-66210600	Weak transcription	Fetal Heart	heart
3	chr7:66206800-66212800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:66206800-66213600	Weak transcription	Small Intestine	intestine
5	chr7:66206800-66216400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:66206800-66223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:66206800-66232600	Weak transcription	Primary T cells from cord blood	blood
8	chr7:66206800-66238800	Weak transcription	Aorta	Aorta
9	chr7:66207000-66209800	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:66207000-66210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:66207000-66211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:66207000-66213000	Weak transcription	Psoas Muscle	Psoas
13	chr7:66207000-66213800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:66207000-66213800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:66207000-66216200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:66207000-66216400	Weak transcription	Right Atrium	heart
17	chr7:66207000-66216600	Weak transcription	Esophagus	oesophagus
18	chr7:66207000-66222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:66207000-66227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:66207000-66227400	Weak transcription	Fetal Stomach	stomach
21	chr7:66207000-66230600	Weak transcription	Fetal Intestine Large	intestine
22	chr7:66207000-66230600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr7:66207000-66234000	Weak transcription	Fetal Thymus	thymus
24	chr7:66207000-66238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:66207000-66238400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:66207200-66212400	Weak transcription	Fetal Brain Female	brain
28	chr7:66207200-66212800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:66207200-66213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:66207200-66213600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:66207200-66223400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:66207400-66210200	Weak transcription	GM12878-XiMat	blood
33	chr7:66207400-66212200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:66207400-66212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:66207400-66213200	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:66207600-66210200	Weak transcription	Fetal Lung	lung
37	chr7:66207600-66212200	Weak transcription	Liver	Liver
38	chr7:66207600-66212200	Weak transcription	Brain Anterior Caudate	brain
39	chr7:66207600-66212200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:66207600-66213600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:66207600-66213800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr7:66207600-66214000	Weak transcription	Gastric	stomach
43	chr7:66207600-66220400	Weak transcription	Brain Angular Gyrus	brain
44	chr7:66207600-66220400	Weak transcription	Brain Substantia Nigra	brain
45	chr7:66207600-66223200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:66207600-66223400	Weak transcription	K562	blood
47	chr7:66207600-66239800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr7:66207800-66212000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:66207800-66212200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr7:66207800-66219800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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