Variant report

Variant	rs1978496
Chromosome Location	chr7:127423513-127423514
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127415404..127418841-chr7:127421923..127425152,3	K562	blood:
2	chr7:127410218..127412934-chr7:127422329..127425135,2	MCF-7	breast:
3	chr7:127423131..127425908-chr7:127427714..127430922,3	K562	blood:
4	chr7:127423131..127425989-chr7:127426509..127430202,4	K562	blood:
5	chr7:127422115..127423719-chr7:127427243..127429540,2	MCF-7	breast:
6	chr7:127412000..127413898-chr7:127423427..127425410,2	MCF-7	breast:
7	chr7:127418258..127422061-chr7:127422146..127424884,5	MCF-7	breast:
8	chr7:127418147..127421025-chr7:127422773..127424458,2	MCF-7	breast:

No data

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[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs11974695	0.89[AFR][1000 genomes]
rs11977988	1.00[YRI][hapmap]
rs11979138	0.89[AFR][1000 genomes]
rs11979895	0.89[AFR][1000 genomes]
rs11983852	0.89[AFR][1000 genomes]
rs17151301	1.00[AFR][1000 genomes]
rs17151329	1.00[AFR][1000 genomes]
rs17151441	0.89[AFR][1000 genomes]
rs17151546	0.89[AFR][1000 genomes]
rs2043980	1.00[AFR][1000 genomes]
rs759842	1.00[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:87 , 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	chr7:127401000-127427000	Weak transcription	HepG2	liver
5	chr7:127401000-127447600	Weak transcription	Fetal Intestine Large	intestine
6	chr7:127401000-127447800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:127403800-127433400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:127407400-127439200	Weak transcription	Primary T cells from cord blood	blood
9	chr7:127407400-127447600	Weak transcription	Dnd41	blood
10	chr7:127407600-127428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:127408400-127426400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:127409400-127430200	Weak transcription	Liver	Liver
13	chr7:127410200-127425000	Weak transcription	Ovary	ovary
14	chr7:127410200-127432800	Weak transcription	Psoas Muscle	Psoas
15	chr7:127411400-127437200	Weak transcription	Left Ventricle	heart
16	chr7:127414600-127427200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:127418000-127427400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:127418200-127426000	Weak transcription	HSMMtube	muscle
19	chr7:127419800-127423600	Enhancers	Brain Cingulate Gyrus	brain
20	chr7:127419800-127435200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:127421000-127423600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:127421000-127423600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:127421000-127423800	Enhancers	Primary hematopoietic stem cells	blood
24	chr7:127421800-127423600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:127422000-127423600	Enhancers	HMEC	breast
26	chr7:127422000-127423600	Enhancers	Osteobl	bone
27	chr7:127422000-127424400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:127422000-127424600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr7:127422200-127423600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:127422200-127423600	Enhancers	GM12878-XiMat	blood
31	chr7:127422200-127423600	Enhancers	NHLF	lung
32	chr7:127422200-127423800	Enhancers	Primary B cells from peripheral blood	blood
33	chr7:127422200-127423800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:127422200-127424000	Enhancers	Primary B cells from cord blood	blood
35	chr7:127422400-127423600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:127422400-127423600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr7:127422400-127423600	Enhancers	NHDF-Ad	bronchial
38	chr7:127422400-127424800	Weak transcription	K562	blood
39	chr7:127422400-127425000	Weak transcription	Gastric	stomach
40	chr7:127422400-127432400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:127422400-127445400	Weak transcription	Aorta	Aorta
42	chr7:127422600-127423600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr7:127422600-127423600	Enhancers	NH-A	brain
44	chr7:127422800-127423600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:127422800-127423600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr7:127422800-127427800	Weak transcription	Brain Angular Gyrus	brain
47	chr7:127422800-127432200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:127423000-127424600	Weak transcription	Fetal Thymus	thymus
49	chr7:127423000-127425000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:127423000-127425000	Weak transcription	Right Atrium	heart

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