Variant report

Variant	rs11971014
Chromosome Location	chr7:2778444-2778445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2769685..2774579-chr7:2777594..2780364,4	K562	blood:
2	chr7:2777447..2779018-chr7:2797725..2799517,2	K562	blood:
3	chr7:2770258..2772875-chr7:2776418..2779322,2	MCF-7	breast:
4	chr7:2776568..2779036-chr7:2798696..2800622,2	MCF-7	breast:
5	chr7:2768256..2774537-chr7:2775031..2780281,7	K562	blood:
6	chr7:2756196..2760316-chr7:2775723..2779597,5	K562	blood:
7	chr7:2777523..2779993-chr7:2788582..2791308,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146535	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11761804	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11764225	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11765492	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs11765726	0.90[CEU][hapmap]
rs11769532	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11772508	0.87[EUR][1000 genomes]
rs12540539	0.89[CEU][hapmap]
rs17132594	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17132624	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132665	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17132741	0.89[CEU][hapmap];0.82[AMR][1000 genomes]
rs17132744	0.89[CEU][hapmap]
rs17300022	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55726557	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55767077	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55776032	0.85[EUR][1000 genomes]
rs55832916	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56007918	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56208415	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56356906	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56399783	0.85[EUR][1000 genomes]
rs6461600	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6964740	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6967664	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73047343	0.81[EUR][1000 genomes]
rs73047368	0.85[EUR][1000 genomes]
rs73047387	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73047393	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73049305	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049327	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73049331	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73049341	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73049362	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73049380	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73051415	0.81[EUR][1000 genomes]
rs757788	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7803944	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7804264	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7811164	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9770108	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017611	chr7:2750418-2781716	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv538654	chr7:2750418-2781716	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2752400-2796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:2761000-2796200	Weak transcription	Hela-S3	cervix
3	chr7:2761000-2797000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:2771000-2780400	Weak transcription	Aorta	Aorta
5	chr7:2771200-2779400	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:2771200-2782200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:2771200-2783200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:2771200-2796200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:2771400-2780600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:2771400-2782400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:2771400-2785000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:2771400-2796200	Weak transcription	NHEK	skin
13	chr7:2771600-2781800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:2772400-2780400	Weak transcription	HMEC	breast
15	chr7:2772800-2783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:2773200-2778800	Enhancers	Primary B cells from peripheral blood	blood
17	chr7:2773200-2782400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:2773200-2783200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:2773200-2796200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:2773200-2796400	Weak transcription	NH-A	brain
21	chr7:2773200-2797000	Weak transcription	Pancreas	Pancrea
22	chr7:2773600-2778600	Enhancers	Primary B cells from cord blood	blood
23	chr7:2773600-2796400	Weak transcription	Osteobl	bone
24	chr7:2775000-2781600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:2775200-2781400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:2775200-2783200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:2775200-2783200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:2775200-2790600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:2775200-2791600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:2775200-2796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:2775400-2778600	Weak transcription	Esophagus	oesophagus
32	chr7:2775400-2782000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:2775400-2789800	Weak transcription	Ovary	ovary
34	chr7:2775400-2790000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:2775400-2797400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr7:2775400-2801200	Weak transcription	Primary T cells from cord blood	blood
37	chr7:2775600-2778600	Weak transcription	Gastric	stomach
38	chr7:2775600-2782400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:2775800-2796400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:2775800-2796400	Weak transcription	HSMM	muscle
41	chr7:2776200-2782800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:2776200-2797000	Weak transcription	Spleen	Spleen
43	chr7:2776400-2783400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:2776600-2780800	Weak transcription	GM12878-XiMat	blood
45	chr7:2776600-2784000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:2776800-2779000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:2776800-2782000	Weak transcription	Fetal Heart	heart
48	chr7:2776800-2782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:2776800-2783200	Weak transcription	Fetal Intestine Large	intestine
50	chr7:2776800-2793600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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