Variant report

Variant	rs41314384
Chromosome Location	chr7:150651642-150651643
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150647011..150651789-chr7:150652430..150656919,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000055118	Chromatin interaction

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

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

rs_ID	r²[population]
rs3730002	1.00[AMR][1000 genomes]
rs3730003	1.00[AMR][1000 genomes]
rs3918178	1.00[AMR][1000 genomes]
rs3918180	1.00[AMR][1000 genomes]
rs3918187	1.00[AMR][1000 genomes]
rs3918191	1.00[AMR][1000 genomes]
rs3918192	1.00[AMR][1000 genomes]
rs41314390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41314396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45490891	1.00[AMR][1000 genomes]
rs6979425	1.00[AMR][1000 genomes]
rs73476760	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
8	nsv465212	chr7:150598492-150667210	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv609000	chr7:150598492-150667210	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv465213	chr7:150606288-150667210	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv609001	chr7:150606288-150667210	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
12	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
16	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
17	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
18	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
19	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
20	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
21	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv970969	chr7:150645769-150655995	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150637800-150652400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:150643000-150651800	Weak transcription	HSMMtube	muscle
3	chr7:150643400-150652200	Weak transcription	Brain Angular Gyrus	brain
4	chr7:150643600-150652000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:150643600-150652200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:150646800-150653200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:150647000-150652000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr7:150647000-150652000	Strong transcription	Fetal Intestine Small	intestine
9	chr7:150647200-150652000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:150647200-150652400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:150647400-150651800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:150647400-150652000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:150647400-150652000	Weak transcription	Fetal Brain Male	brain
14	chr7:150647400-150652200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:150647400-150652200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:150647400-150652200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:150647600-150651800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:150647600-150651800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:150647800-150652000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:150649400-150652000	Transcr. at gene 5' and 3'	K562	blood
21	chr7:150649600-150652000	Weak transcription	Gastric	stomach
22	chr7:150649600-150653200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:150649800-150652800	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr7:150649800-150654800	Enhancers	Left Ventricle	heart
25	chr7:150650000-150651800	Weak transcription	Spleen	Spleen
26	chr7:150650000-150652000	Weak transcription	Brain Germinal Matrix	brain
27	chr7:150650000-150652000	Weak transcription	Fetal Brain Female	brain
28	chr7:150650000-150652400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:150650000-150652600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:150650000-150652800	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr7:150650200-150651800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr7:150650200-150651800	Genic enhancers	Fetal Stomach	stomach
33	chr7:150650200-150652000	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr7:150650400-150654600	Enhancers	Right Ventricle	heart
35	chr7:150650800-150651800	Enhancers	Fetal Heart	heart
36	chr7:150650800-150652000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:150650800-150653400	Enhancers	Pancreas	Pancrea
38	chr7:150651000-150652000	Enhancers	Ovary	ovary
39	chr7:150651000-150652600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr7:150651000-150652600	Enhancers	Right Atrium	heart
41	chr7:150651000-150652800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:150651000-150654000	Enhancers	Fetal Lung	lung
43	chr7:150651000-150654200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:150651200-150652200	Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr7:150651200-150653600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:150651400-150651800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:150651400-150651800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:150651400-150653000	Enhancers	Esophagus	oesophagus
49	chr7:150651400-150653400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:150651400-150653400	Enhancers	Brain Anterior Caudate	brain

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