Variant report

Variant	rs1995693
Chromosome Location	chr3:78694930-78694931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:77087694..77088207-chr3:78694732..78695375,2	MCF-7	breast:
2	chr3:78323381..78324059-chr3:78694746..78695252,2	MCF-7	breast:
3	chr3:77087640..77088467-chr3:78694881..78695566,2	MCF-7	breast:
4	chr3:78612462..78613301-chr3:78694622..78695164,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1032966	1.00[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217924	0.85[EUR][1000 genomes]
rs2292222	1.00[JPT][hapmap]
rs2292223	1.00[JPT][hapmap]
rs2660739	0.93[ASW][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3773216	0.87[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773217	0.87[ASW][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529995	chr3:78188643-78739698	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1008156	chr3:78444137-78765884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1010650	chr3:78505564-78699161	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78647200-78701000	Weak transcription	Spleen	Spleen
2	chr3:78654200-78696800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:78654200-78708800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:78654200-78746600	Weak transcription	NHDF-Ad	bronchial
5	chr3:78654600-78697000	Weak transcription	Osteobl	bone
6	chr3:78654800-78706800	Weak transcription	NHLF	lung
7	chr3:78654800-78711000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:78656000-78718600	Weak transcription	Fetal Intestine Large	intestine
9	chr3:78656200-78711000	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:78659400-78704400	Weak transcription	Fetal Intestine Small	intestine
11	chr3:78660400-78696800	Weak transcription	HSMM	muscle
12	chr3:78664000-78710200	Weak transcription	Brain Substantia Nigra	brain
13	chr3:78667200-78702400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:78667200-78704400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:78667200-78706600	Weak transcription	Gastric	stomach
16	chr3:78667200-78751200	Weak transcription	Esophagus	oesophagus
17	chr3:78675200-78697000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:78676800-78730600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:78679200-78720800	Weak transcription	Aorta	Aorta
20	chr3:78679200-78733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:78679400-78710600	Weak transcription	Brain Anterior Caudate	brain
22	chr3:78679400-78730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:78679400-78736600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:78680400-78704200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr3:78680400-78704400	Weak transcription	Ovary	ovary
26	chr3:78680400-78717800	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:78680400-78723600	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:78680600-78699200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:78682800-78701800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr3:78682800-78715000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:78682800-78720200	Weak transcription	Adipose Nuclei	Adipose
32	chr3:78683000-78696800	Weak transcription	Brain Germinal Matrix	brain
33	chr3:78683000-78711000	Weak transcription	Brain Angular Gyrus	brain
34	chr3:78683200-78704400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:78685200-78698000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:78687400-78696800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:78688000-78697200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:78689000-78697400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:78689000-78699800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr3:78689000-78702000	Weak transcription	Fetal Stomach	stomach
41	chr3:78689000-78705800	Weak transcription	Primary T cells from cord blood	blood
42	chr3:78692400-78695000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr3:78692400-78695400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:78692600-78695000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:78692600-78695400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:78692600-78695400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr3:78692600-78695400	Enhancers	Fetal Brain Female	brain
48	chr3:78692800-78695400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:78693000-78695400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr3:78693200-78695000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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