Variant report

Variant	rs547697122
Chromosome Location	chr7:104850236-104850237
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	chr7:104842758..104847197-chr7:104847496..104851366,4	MCF-7	breast:
2	chr7:104845667..104848207-chr7:104850068..104852125,2	K562	blood:

Variant related genes	Relation type
ENSG00000135250	Chromatin interaction
ENSG00000271482	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	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
2	chr7:104822000-104858800	Weak transcription	Gastric	stomach
3	chr7:104827400-104850400	Weak transcription	Aorta	Aorta
4	chr7:104828600-104851000	Weak transcription	Stomach Mucosa	stomach
5	chr7:104830600-104850600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:104831200-104851000	Weak transcription	Pancreas	Pancrea
7	chr7:104834600-104851000	Weak transcription	Small Intestine	intestine
8	chr7:104838600-104850400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:104839400-104858400	Weak transcription	NHLF	lung
10	chr7:104839600-104850600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:104839600-104857200	Weak transcription	A549	lung
12	chr7:104841200-104853400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:104841600-104851200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:104842000-104850400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:104842000-104851000	Weak transcription	Ovary	ovary
16	chr7:104842000-104851000	Weak transcription	HUVEC	blood vessel
17	chr7:104842200-104865400	Weak transcription	K562	blood
18	chr7:104842400-104857200	Weak transcription	HMEC	breast
19	chr7:104842800-104850400	Weak transcription	Fetal Lung	lung
20	chr7:104842800-104851200	Weak transcription	Esophagus	oesophagus
21	chr7:104843200-104863400	Weak transcription	HepG2	liver
22	chr7:104843600-104851200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr7:104843800-104851000	Weak transcription	Psoas Muscle	Psoas
24	chr7:104843800-104851000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:104843800-104851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:104843800-104851200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:104843800-104851200	Weak transcription	Right Ventricle	heart
28	chr7:104843800-104851200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:104843800-104859600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:104844000-104850800	Weak transcription	Liver	Liver
31	chr7:104844000-104863200	Weak transcription	Fetal Intestine Large	intestine
32	chr7:104844200-104851000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:104844200-104851000	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:104844200-104869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:104844200-104869000	Weak transcription	Fetal Intestine Small	intestine
36	chr7:104844200-104869000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:104844400-104851200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:104844400-104851200	Weak transcription	Adipose Nuclei	Adipose
39	chr7:104844600-104857800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:104845200-104851800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr7:104845400-104851200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:104845400-104851200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:104845400-104857000	Weak transcription	NHEK	skin
44	chr7:104845400-104857200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:104845400-104858800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:104845600-104851200	Weak transcription	Lung	lung
47	chr7:104845600-104851800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:104846200-104850800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr7:104846400-104850800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:104846400-104850800	Weak transcription	Colon Smooth Muscle	Colon

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