Variant report

Variant	rs538595580
Chromosome Location	chr7:4284266-4284267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4266434..4268284-chr7:4284245..4288090,3	MCF-7	breast:
2	chr7:4280752..4283162-chr7:4283913..4286565,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146555	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv917252	chr7:4017819-4374090	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking 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	1 gene(s)	inside rSNPs	diseases
12	nsv527624	chr7:4027536-4424054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv869540	chr7:4063875-4302040	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv518299	chr7:4116665-4286597	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv949581	chr7:4166659-4485938	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	esv1820543	chr7:4167991-4286597	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv887341	chr7:4167991-4298625	Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv887342	chr7:4182850-4293524	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1023367	chr7:4192258-4306053	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv887344	chr7:4211696-4393478	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv1030157	chr7:4272488-4311316	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv1034970	chr7:4283468-4405875	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv538693	chr7:4283468-4405875	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4235800-4287200	Weak transcription	Gastric	stomach
2	chr7:4261200-4285000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:4267800-4284400	Weak transcription	Fetal Brain Female	brain
4	chr7:4268000-4291800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:4275600-4287800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:4276600-4288600	Strong transcription	Aorta	Aorta
7	chr7:4278400-4287600	Weak transcription	Fetal Heart	heart
8	chr7:4278400-4296000	Weak transcription	Brain Germinal Matrix	brain
9	chr7:4280200-4285200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:4280400-4285200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:4280400-4285400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:4280600-4285200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:4280800-4287800	Weak transcription	Fetal Kidney	kidney
14	chr7:4281200-4284600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:4281200-4285000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:4281400-4285800	Strong transcription	Pancreas	Pancrea
17	chr7:4281800-4285200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:4282000-4285000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:4282000-4288600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:4282400-4284800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:4282600-4284400	Strong transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:4283200-4285000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:4283200-4288400	Weak transcription	Brain Angular Gyrus	brain
24	chr7:4283400-4285000	ZNF genes & repeats	Fetal Intestine Small	intestine
25	chr7:4283600-4284600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr7:4283600-4285000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr7:4283600-4285200	ZNF genes & repeats	Fetal Stomach	stomach
28	chr7:4283600-4287600	ZNF genes & repeats	Spleen	Spleen
29	chr7:4283600-4288000	Weak transcription	Fetal Brain Male	brain
30	chr7:4283800-4284600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
31	chr7:4283800-4284600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
32	chr7:4283800-4284800	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr7:4283800-4285200	Strong transcription	Right Ventricle	heart
34	chr7:4283800-4286200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr7:4284000-4284400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr7:4284000-4284600	ZNF genes & repeats	Fetal Intestine Large	intestine
37	chr7:4284000-4284600	ZNF genes & repeats	Fetal Muscle Leg	muscle
38	chr7:4284000-4286200	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:4284000-4286200	Weak transcription	Fetal Lung	lung
40	chr7:4284200-4284400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
41	chr7:4284200-4284600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:4284200-4284600	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr7:4284200-4284800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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