Variant report

Variant	rs11979895
Chromosome Location	chr7:127430839-127430840
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127425728..127430973-chr7:127434300..127441103,9	K562	blood:
2	chr7:127429473..127432507-chr7:127434454..127438684,5	K562	blood:
3	chr7:127416976..127420911-chr7:127427598..127431217,3	K562	blood:
4	chr7:127388074..127389795-chr7:127429398..127431427,2	K562	blood:
5	chr7:127423131..127425908-chr7:127427714..127430922,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11973903	1.00[YRI][hapmap]
rs11977988	1.00[YRI][hapmap]
rs11983852	1.00[AFR][1000 genomes]
rs17151301	0.89[AFR][1000 genomes]
rs17151329	0.89[AFR][1000 genomes]
rs17151437	0.81[AFR][1000 genomes]
rs17151441	1.00[AFR][1000 genomes]
rs17151546	1.00[AFR][1000 genomes]
rs1978496	0.89[AFR][1000 genomes]
rs2043980	0.89[AFR][1000 genomes]
rs28636421	0.90[AFR][1000 genomes]
rs759842	0.89[AFR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
2	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
3	chr7:127395800-127437200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
8	chr7:127407400-127447600	Weak transcription	Dnd41	blood
9	chr7:127410200-127432800	Weak transcription	Psoas Muscle	Psoas
10	chr7:127411400-127437200	Weak transcription	Left Ventricle	heart
11	chr7:127419800-127435200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:127422400-127432400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:127422400-127445400	Weak transcription	Aorta	Aorta
14	chr7:127422800-127432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:127423000-127432200	Weak transcription	Lung	lung
16	chr7:127423000-127437200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:127423000-127437400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:127423000-127437800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:127423000-127437800	Weak transcription	Fetal Lung	lung
20	chr7:127423000-127449200	Weak transcription	Small Intestine	intestine
21	chr7:127423200-127432600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:127423200-127437400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:127423200-127440000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:127423200-127447600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr7:127423400-127432400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:127423400-127432600	Weak transcription	Brain Substantia Nigra	brain
27	chr7:127423400-127433400	Weak transcription	Brain Hippocampus Middle	brain
28	chr7:127423400-127449000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:127423600-127431400	Weak transcription	HMEC	breast
30	chr7:127423600-127433200	Weak transcription	GM12878-XiMat	blood
31	chr7:127423600-127437800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:127423600-127447400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:127423800-127431400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:127424600-127431200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr7:127425400-127431200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:127425400-127432400	Weak transcription	Gastric	stomach
37	chr7:127425400-127433000	Weak transcription	Ovary	ovary
38	chr7:127425800-127436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:127426200-127439400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:127426600-127438200	Weak transcription	HSMMtube	muscle
41	chr7:127427600-127431600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:127427600-127432400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:127427600-127432600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:127427600-127432800	Weak transcription	HepG2	liver
45	chr7:127427600-127433600	Weak transcription	Fetal Kidney	kidney
46	chr7:127427600-127438800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr7:127427600-127447600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr7:127427600-127447600	Weak transcription	Thymus	Thymus
49	chr7:127427800-127431400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:127427800-127432800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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