Variant report

Variant	rs202125430
Chromosome Location	chr4:7043236-7043237
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6999677..7002587-chr4:7042055..7044238,2	K562	blood:
2	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
3	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
4	chr4:6711584..6713629-chr4:7043225..7044994,2	MCF-7	breast:
5	chr4:7041068..7043471-chr4:7072135..7073962,2	K562	blood:
6	chr4:6999660..7002155-chr4:7043088..7045317,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109519	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000178988	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv878532	chr4:7010504-7055603	Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv878533	chr4:7032180-7063524	Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv593548	chr4:7043099-7045945	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7011600-7043600	Weak transcription	Psoas Muscle	Psoas
2	chr4:7013200-7044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:7032800-7044000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr4:7033000-7043600	Weak transcription	Fetal Kidney	kidney
5	chr4:7033200-7043600	Weak transcription	Fetal Brain Male	brain
6	chr4:7033400-7043400	Weak transcription	HUVEC	blood vessel
7	chr4:7033800-7043800	Weak transcription	Small Intestine	intestine
8	chr4:7034400-7043400	Weak transcription	Primary B cells from cord blood	blood
9	chr4:7034400-7043600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:7034400-7043800	Weak transcription	Dnd41	blood
11	chr4:7034400-7044000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:7034400-7044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:7034600-7043400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:7034600-7043600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:7034600-7043800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:7034800-7043600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:7035000-7043800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr4:7035400-7043600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:7037000-7043400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:7037000-7043400	Weak transcription	HSMM	muscle
21	chr4:7037000-7043600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:7037000-7043800	Weak transcription	NHEK	skin
23	chr4:7037200-7043400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:7037400-7043400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:7037600-7043400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr4:7038400-7043400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:7039400-7043600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:7040000-7044000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:7040200-7043800	Weak transcription	K562	blood
30	chr4:7042400-7043600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr4:7042600-7044200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr4:7042800-7043400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:7042800-7043400	Enhancers	Brain Angular Gyrus	brain
34	chr4:7042800-7043400	Weak transcription	A549	lung
35	chr4:7042800-7043600	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr4:7042800-7043600	Genic enhancers	Fetal Intestine Small	intestine
37	chr4:7043000-7043400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:7043000-7043400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:7043000-7043400	Enhancers	Colonic Mucosa	Colon
40	chr4:7043000-7043400	Enhancers	Duodenum Mucosa	Duodenum
41	chr4:7043000-7043400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr4:7043000-7043400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr4:7043000-7043600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:7043000-7043600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:7043000-7043600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr4:7043000-7043600	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr4:7043000-7043600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:7043000-7043600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:7043000-7043600	Enhancers	Adipose Nuclei	Adipose
50	chr4:7043000-7043600	Enhancers	Liver	Liver

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