Variant report

Variant	rs73689294
Chromosome Location	chr7:39775167-39775168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39660619..39666370-chr7:39771379..39777121,13	MCF-7	breast:
2	chr7:39661063..39664836-chr7:39769831..39775766,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000006451	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11983705	0.82[EUR][1000 genomes]
rs11983755	0.82[EUR][1000 genomes]
rs16870185	0.82[EUR][1000 genomes]
rs16880073	0.82[EUR][1000 genomes]
rs17171605	0.82[EUR][1000 genomes]
rs17171606	0.82[EUR][1000 genomes]
rs2329409	0.82[EUR][1000 genomes]
rs2876857	0.82[EUR][1000 genomes]
rs2876859	0.82[EUR][1000 genomes]
rs2876860	0.82[EUR][1000 genomes]
rs4236361	0.82[EUR][1000 genomes]
rs4236362	0.82[EUR][1000 genomes]
rs4236363	0.82[EUR][1000 genomes]
rs4720332	0.91[EUR][1000 genomes]
rs4723886	0.82[EUR][1000 genomes]
rs4723890	0.91[EUR][1000 genomes]
rs4723896	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56844739	0.82[EUR][1000 genomes]
rs56895888	0.82[EUR][1000 genomes]
rs59434915	0.91[EUR][1000 genomes]
rs6948816	0.91[EUR][1000 genomes]
rs6949371	0.91[EUR][1000 genomes]
rs6963428	0.91[EUR][1000 genomes]
rs73377388	0.82[EUR][1000 genomes]
rs73379304	0.82[EUR][1000 genomes]
rs73689214	0.91[EUR][1000 genomes]
rs73689251	0.91[EUR][1000 genomes]
rs73689252	0.91[EUR][1000 genomes]
rs7788924	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7789326	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7805611	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][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	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 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	chr7:39773000-39775200	Active TSS	GM12878-XiMat	blood
2	chr7:39773800-39775800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr7:39773800-39775800	Enhancers	Primary hematopoietic stem cells	blood
4	chr7:39773800-39775800	Enhancers	Small Intestine	intestine
5	chr7:39774000-39775200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:39774000-39775200	Weak transcription	Fetal Lung	lung
7	chr7:39774000-39775200	Weak transcription	Right Ventricle	heart
8	chr7:39774000-39775400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:39774000-39775400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:39774000-39775600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr7:39774000-39775800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:39774000-39776000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:39774000-39776200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:39774000-39781600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:39774200-39775200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:39774200-39775200	Enhancers	Primary B cells from cord blood	blood
17	chr7:39774200-39775200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:39774200-39775200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr7:39774200-39775200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:39774200-39775200	Weak transcription	Brain Anterior Caudate	brain
21	chr7:39774200-39775200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:39774200-39775200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:39774200-39775200	Enhancers	Duodenum Mucosa	Duodenum
24	chr7:39774200-39775200	Weak transcription	Left Ventricle	heart
25	chr7:39774200-39775200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:39774200-39775200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:39774200-39775200	Weak transcription	K562	blood
28	chr7:39774200-39775400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:39774200-39775400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:39774200-39775400	Weak transcription	Right Atrium	heart
31	chr7:39774200-39775400	Weak transcription	Spleen	Spleen
32	chr7:39774200-39775400	Enhancers	HUVEC	blood vessel
33	chr7:39774200-39775600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr7:39774200-39775600	Enhancers	Brain Hippocampus Middle	brain
35	chr7:39774200-39775600	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:39774200-39775600	Weak transcription	Pancreas	Pancrea
37	chr7:39774200-39775800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:39774200-39775800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:39774200-39775800	Enhancers	Primary B cells from peripheral blood	blood
40	chr7:39774200-39775800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr7:39774200-39775800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:39774200-39775800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr7:39774200-39775800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr7:39774200-39775800	Enhancers	Stomach Mucosa	stomach
45	chr7:39774200-39775800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr7:39774200-39775800	Enhancers	NHEK	skin
47	chr7:39774200-39776000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:39774200-39776000	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr7:39774200-39776200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:39774200-39776400	Enhancers	Primary T cells fromperipheralblood	blood

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