Variant report

Variant	rs3823994
Chromosome Location	chr7:127669857-127669858
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127663588..127667936-chr7:127668041..127670204,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1345509	0.88[ASW][hapmap];0.89[CHB][hapmap]
rs1419968	0.84[CHB][hapmap]
rs322827	0.82[JPT][hapmap]
rs322828	0.82[JPT][hapmap]
rs3735634	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3779526	0.88[ASW][hapmap];0.89[CHB][hapmap]
rs3808056	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs3808077	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs3823995	0.94[ASW][hapmap];0.89[CHB][hapmap];0.81[AFR][1000 genomes]
rs6944446	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs6973092	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
2	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:127651800-127670600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:127657000-127670200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:127661200-127670400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr7:127661600-127670200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:127661600-127670400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:127663200-127671200	Weak transcription	NHLF	lung
12	chr7:127663200-127671400	Weak transcription	NHDF-Ad	bronchial
13	chr7:127663600-127670800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:127664200-127670600	Enhancers	Adipose Nuclei	Adipose
15	chr7:127666000-127670400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:127666000-127670800	Weak transcription	HMEC	breast
17	chr7:127666000-127670800	Weak transcription	Osteobl	bone
18	chr7:127666200-127672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:127666600-127670400	Weak transcription	HUVEC	blood vessel
20	chr7:127666600-127670600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:127666800-127670600	Weak transcription	Psoas Muscle	Psoas
22	chr7:127666800-127670800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:127668200-127670000	Weak transcription	Primary B cells from cord blood	blood
24	chr7:127668200-127670600	Weak transcription	Fetal Kidney	kidney
25	chr7:127668200-127670600	Weak transcription	NH-A	brain
26	chr7:127668200-127670800	Weak transcription	HSMMtube	muscle
27	chr7:127668200-127672200	Weak transcription	Fetal Heart	heart
28	chr7:127668400-127670600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:127668600-127670400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:127668600-127670800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:127668800-127670000	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:127668800-127670000	Strong transcription	Primary T cells from cord blood	blood
33	chr7:127668800-127670000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:127668800-127670000	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
35	chr7:127668800-127670000	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
36	chr7:127668800-127670000	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:127668800-127670000	Strong transcription	Placenta	Placenta
38	chr7:127668800-127670200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr7:127668800-127670200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:127668800-127670200	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
41	chr7:127668800-127670200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
42	chr7:127668800-127670400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:127668800-127670400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
44	chr7:127668800-127670400	Strong transcription	Dnd41	blood
45	chr7:127668800-127670600	Genic enhancers	Fetal Intestine Small	intestine
46	chr7:127668800-127670600	Genic enhancers	Spleen	Spleen
47	chr7:127668800-127671000	ZNF genes & repeats	K562	blood
48	chr7:127669000-127670000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:127669000-127670000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr7:127669000-127670000	Genic enhancers	Right Ventricle	heart

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