Variant report

Variant	rs554346597
Chromosome Location	chr4:102132256-102132257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102131746..102133996-chr4:102142309..102145275,2	MCF-7	breast:
2	chr4:102127770..102129631-chr4:102130414..102132314,2	MCF-7	breast:
3	chr4:102129760..102133881-chr4:102266334..102270307,6	MCF-7	breast:
4	chr4:102130741..102132972-chr4:102224508..102226264,2	MCF-7	breast:
5	chr4:102116031..102123578-chr4:102130356..102136503,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138814	Chromatin interaction
ENSG00000254531	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	esv3451251	chr4:102132239-102132510	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102118000-102132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:102121800-102132600	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:102122000-102132400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:102123200-102132400	Weak transcription	NHEK	skin
5	chr4:102123200-102133400	Weak transcription	Psoas Muscle	Psoas
6	chr4:102123200-102133400	Weak transcription	Right Atrium	heart
7	chr4:102123400-102132800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:102124200-102132800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:102127400-102132600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:102128000-102138200	Weak transcription	Primary B cells from cord blood	blood
11	chr4:102129000-102140400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:102129600-102132600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:102129600-102135600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:102129600-102138600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:102131200-102133400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:102131400-102133200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:102131600-102133000	Enhancers	Small Intestine	intestine
18	chr4:102131600-102133600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:102131800-102132400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:102131800-102132800	Active TSS	A549	lung
21	chr4:102131800-102133000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:102131800-102133000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:102131800-102146000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:102132000-102133000	Enhancers	NH-A	brain
25	chr4:102132000-102133200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:102132000-102133200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:102132200-102132400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:102132200-102132400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:102132200-102132600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr4:102132200-102132800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr4:102132200-102133000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:102132200-102133000	Enhancers	HMEC	breast
33	chr4:102132200-102133000	Enhancers	NHDF-Ad	bronchial
34	chr4:102132200-102133200	Enhancers	HepG2	liver
35	chr4:102132200-102133200	Enhancers	HSMM	muscle
36	chr4:102132200-102133600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr4:102132200-102133600	Enhancers	Osteobl	bone
38	chr4:102132200-102133800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:102132200-102133800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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