Variant report

Variant	rs11978377
Chromosome Location	chr7:26208189-26208190
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26208099..26210370-chr7:26211210..26213726,2	K562	blood:
2	chr7:26205548..26209207-chr7:26238110..26241194,3	MCF-7	breast:
3	chr7:26204327..26208311-chr7:26225894..26230203,6	K562	blood:
4	chr7:26206391..26208295-chr7:26237571..26240360,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122566	Chromatin interaction
ENSG00000122565	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10499573	0.94[EUR][1000 genomes]
rs10951126	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10951127	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11979154	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12537093	0.94[EUR][1000 genomes]
rs12539124	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1864241	0.94[EUR][1000 genomes]
rs2070601	0.94[EUR][1000 genomes]
rs2237329	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2237330	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237332	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2237333	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237334	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41374744	0.94[EUR][1000 genomes]
rs4273	0.94[EUR][1000 genomes]
rs58438239	0.81[EUR][1000 genomes]
rs58914793	0.81[EUR][1000 genomes]
rs6960012	0.88[EUR][1000 genomes]
rs9638832	0.81[EUR][1000 genomes]
rs9639531	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
2	nsv1019804	chr7:26057723-26214280	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
5	nsv1034358	chr7:26142380-26219559	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1018971	chr7:26161228-26380361	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26196600-26222000	Weak transcription	Left Ventricle	heart
2	chr7:26197400-26210000	Weak transcription	A549	lung
3	chr7:26198800-26222000	Weak transcription	Spleen	Spleen
4	chr7:26199400-26222000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:26199400-26230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:26199800-26210400	Weak transcription	Pancreas	Pancrea
7	chr7:26200000-26227200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:26200800-26210800	Weak transcription	HepG2	liver
9	chr7:26201200-26209800	Weak transcription	Psoas Muscle	Psoas
10	chr7:26205400-26208800	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:26206000-26208200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:26206000-26209000	Weak transcription	NHEK	skin
13	chr7:26206000-26210800	Weak transcription	Colonic Mucosa	Colon
14	chr7:26206400-26208800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:26206400-26208800	Weak transcription	Thymus	Thymus
16	chr7:26206600-26208400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:26206600-26208400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:26206600-26208800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:26206600-26208800	Weak transcription	Small Intestine	intestine
20	chr7:26206600-26209800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:26206600-26219600	Weak transcription	K562	blood
22	chr7:26206600-26220600	Weak transcription	Right Atrium	heart
23	chr7:26206600-26227600	Weak transcription	Esophagus	oesophagus
24	chr7:26206800-26208400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:26206800-26208400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:26206800-26208800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:26206800-26208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:26206800-26210000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:26206800-26226000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:26207000-26208400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:26207000-26208600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:26207000-26220200	Weak transcription	Right Ventricle	heart
33	chr7:26207000-26226800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:26207000-26227400	Weak transcription	Gastric	stomach
35	chr7:26207000-26227600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:26207000-26228000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:26207200-26208600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:26207200-26208600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr7:26207200-26208800	Weak transcription	Placenta	Placenta
40	chr7:26207200-26208800	Weak transcription	HMEC	breast
41	chr7:26207200-26209000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:26207200-26210000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:26207200-26210000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:26207200-26210400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:26207200-26218000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:26207200-26224600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:26207200-26227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr7:26207200-26228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:26207400-26209800	Weak transcription	GM12878-XiMat	blood
50	chr7:26207400-26210000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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