Variant report

Variant	rs548993891
Chromosome Location	chr7:69198241-69198242
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74657888..74658544-chr7:69197714..69198694,2	Hela-S3	cervix:
2	chr7:69198010..69200817-chr7:69202964..69204701,2	K562	blood:

Variant related genes	Relation type
ENSG00000140459	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3394718	chr7:69194534-69238432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027399	chr7:69197011-69239721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv538918	chr7:69197011-69239721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69185000-69203000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:69193400-69202400	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:69193400-69204200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:69193800-69203800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:69196000-69198800	Enhancers	Brain Germinal Matrix	brain
6	chr7:69196000-69203000	Weak transcription	Fetal Lung	lung
7	chr7:69196400-69198400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:69196400-69198400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:69196600-69198400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:69196600-69198600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:69196600-69198600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:69196600-69198600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:69196600-69198600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:69196600-69199000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:69196800-69198400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:69197000-69198400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:69197000-69198600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:69197000-69198600	Enhancers	NHEK	skin
19	chr7:69197000-69199000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:69197200-69200600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:69197400-69198600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:69197400-69199000	Enhancers	Fetal Brain Female	brain
23	chr7:69197400-69199400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:69197400-69202800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:69197600-69202400	Weak transcription	Ovary	ovary
26	chr7:69197600-69202600	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:69197600-69202800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:69197600-69202800	Weak transcription	Fetal Brain Male	brain
29	chr7:69197600-69202800	Weak transcription	Fetal Heart	heart
30	chr7:69197600-69202800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:69197600-69203000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:69197600-69203400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr7:69198000-69200200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:69198000-69200600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:69198000-69202000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:69198000-69202400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:69198000-69202400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:69198000-69203000	Weak transcription	Fetal Kidney	kidney
39	chr7:69198000-69203400	Weak transcription	A549	lung
40	chr7:69198200-69198600	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr7:69198200-69199800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:69198200-69203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:69198200-69203400	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:69198200-69203400	Weak transcription	Fetal Intestine Small	intestine

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