Variant report

Variant	rs568920228
Chromosome Location	chr7:128102669-128102670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:128102640-128102790	NHLF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
2	chr7:128098205..128100109-chr7:128100150..128103100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272601	TF binding region
ENSG00000228700	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv608401	chr7:128083454-128108776	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv981577	chr7:128102655-128107081	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128096400-128116400	Weak transcription	Lung	lung
2	chr7:128097400-128103400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128097400-128107800	Weak transcription	Spleen	Spleen
4	chr7:128097600-128102800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:128097600-128116200	Weak transcription	Fetal Kidney	kidney
6	chr7:128097600-128116200	Weak transcription	Left Ventricle	heart
7	chr7:128097800-128116400	Weak transcription	Fetal Stomach	stomach
8	chr7:128097800-128116400	Weak transcription	Gastric	stomach
9	chr7:128097800-128116400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:128098200-128102800	Weak transcription	Right Ventricle	heart
11	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:128098200-128116400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:128098400-128108000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:128098600-128104800	Weak transcription	Osteobl	bone
15	chr7:128098600-128116200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:128098800-128108200	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:128099000-128116200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:128099000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:128099200-128116400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:128099400-128116200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:128099400-128116400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:128099800-128102800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:128099800-128102800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr7:128099800-128103200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:128099800-128104800	Weak transcription	Brain Substantia Nigra	brain
26	chr7:128099800-128116200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr7:128099800-128116200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:128099800-128116400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:128099800-128116400	Weak transcription	Fetal Intestine Small	intestine
30	chr7:128099800-128116400	Weak transcription	Ovary	ovary
31	chr7:128100000-128102800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:128100000-128102800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:128100000-128104200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:128100000-128108000	Weak transcription	Fetal Brain Female	brain
35	chr7:128100000-128109000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:128100000-128116200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:128100000-128116200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:128100000-128116200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:128100000-128116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:128100000-128116400	Weak transcription	Brain Hippocampus Middle	brain
41	chr7:128100000-128116400	Weak transcription	Esophagus	oesophagus
42	chr7:128100000-128116400	Weak transcription	Fetal Brain Male	brain
43	chr7:128100200-128108000	Weak transcription	Brain Anterior Caudate	brain
44	chr7:128100200-128108000	Weak transcription	Dnd41	blood
45	chr7:128100200-128116200	Weak transcription	Brain Germinal Matrix	brain
46	chr7:128100200-128116200	Weak transcription	K562	blood
47	chr7:128100400-128108200	Weak transcription	Adipose Nuclei	Adipose
48	chr7:128100400-128116200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr7:128100600-128116200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:128101200-128105200	Weak transcription	GM12878-XiMat	blood

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