Variant report

Variant	rs541100411
Chromosome Location	chr7:66148828-66148829
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	chr7:66145930..66148922-chr7:66213233..66215140,2	MCF-7	breast:
2	chr7:66147345..66148941-chr7:66150960..66153085,3	K562	blood:

Variant related genes	Relation type
ENSG00000271064	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	esv3385090	chr7:66146376-66205022	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv3401338	chr7:66147493-66206298	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv970870	chr7:66147890-66158166	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66146000-66149200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:66146200-66149000	Active TSS	HSMM	muscle
3	chr7:66146400-66149000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:66146400-66149000	Active TSS	NHDF-Ad	bronchial
5	chr7:66146400-66149000	Active TSS	NHLF	lung
6	chr7:66146400-66149400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:66147600-66149200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:66147800-66149000	Weak transcription	Small Intestine	intestine
9	chr7:66148000-66149000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:66148000-66149000	Enhancers	Thymus	Thymus
11	chr7:66148000-66149200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:66148000-66149200	Flanking Active TSS	NHEK	skin
13	chr7:66148000-66149800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr7:66148000-66157200	Weak transcription	Spleen	Spleen
15	chr7:66148000-66157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:66148000-66161800	Weak transcription	Left Ventricle	heart
17	chr7:66148000-66161800	Weak transcription	Right Atrium	heart
18	chr7:66148000-66165600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:66148000-66177600	Weak transcription	Aorta	Aorta
20	chr7:66148200-66149200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:66148200-66149600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:66148200-66149600	Enhancers	Liver	Liver
23	chr7:66148200-66149600	Enhancers	K562	blood
24	chr7:66148200-66149800	Enhancers	Pancreas	Pancrea
25	chr7:66148200-66157800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:66148200-66157800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:66148200-66157800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:66148200-66158400	Weak transcription	Primary T cells from cord blood	blood
29	chr7:66148200-66161800	Weak transcription	Psoas Muscle	Psoas
30	chr7:66148200-66162000	Weak transcription	Gastric	stomach
31	chr7:66148200-66162000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:66148200-66175600	Weak transcription	Primary B cells from cord blood	blood
33	chr7:66148400-66149000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:66148400-66149000	Enhancers	Brain Germinal Matrix	brain
35	chr7:66148400-66149000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr7:66148400-66149000	Enhancers	Fetal Brain Female	brain
37	chr7:66148400-66149000	Enhancers	Fetal Muscle Leg	muscle
38	chr7:66148400-66149200	Enhancers	Brain Hippocampus Middle	brain
39	chr7:66148400-66149400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr7:66148400-66149400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:66148400-66149600	Enhancers	Adipose Nuclei	Adipose
42	chr7:66148400-66150200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr7:66148400-66150200	Weak transcription	Right Ventricle	heart
44	chr7:66148400-66153000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:66148400-66153000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:66148400-66153200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr7:66148400-66153200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:66148400-66153200	Weak transcription	Fetal Kidney	kidney
49	chr7:66148400-66157200	Weak transcription	Fetal Intestine Small	intestine
50	chr7:66148400-66157400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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