Variant report

Variant	rs566672345
Chromosome Location	chr7:2771208-2771209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:2768256..2774537-chr7:2775031..2780281,7	K562	blood:
2	chr7:2726497..2731953-chr7:2769904..2775258,10	MCF-7	breast:
3	chr7:2751778..2761552-chr7:2768388..2775125,13	K562	blood:
4	chr7:2770824..2773530-chr7:2796217..2798133,2	K562	blood:
5	chr7:2770258..2772875-chr7:2776418..2779322,2	MCF-7	breast:
6	chr7:2769685..2774579-chr7:2777594..2780364,4	K562	blood:

Variant related genes	Relation type
ENSG00000174945	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029250	chr7:2722737-2881021	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538652	chr7:2722737-2881021	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1024023	chr7:2726210-2829581	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv538653	chr7:2726210-2829581	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017611	chr7:2750418-2781716	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv538654	chr7:2750418-2781716	Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1015700	chr7:2753965-2945848	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv605872	chr7:2770899-2776698	Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2752400-2796000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:2754800-2774200	Weak transcription	Fetal Brain Male	brain
3	chr7:2756000-2777800	Weak transcription	Psoas Muscle	Psoas
4	chr7:2757600-2772800	Weak transcription	Small Intestine	intestine
5	chr7:2758600-2771600	Weak transcription	K562	blood
6	chr7:2759200-2774000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:2759400-2771600	Strong transcription	Pancreas	Pancrea
8	chr7:2761000-2773000	Weak transcription	A549	lung
9	chr7:2761000-2774200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:2761000-2774200	Weak transcription	GM12878-XiMat	blood
11	chr7:2761000-2774800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:2761000-2796200	Weak transcription	Hela-S3	cervix
13	chr7:2761000-2797000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:2761400-2772800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:2762600-2772800	Strong transcription	Fetal Intestine Large	intestine
16	chr7:2762800-2771400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:2764600-2771600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:2764600-2774400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:2764800-2771400	Strong transcription	Primary B cells from cord blood	blood
20	chr7:2764800-2772600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr7:2765200-2771400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:2766600-2773400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr7:2767200-2773000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:2767800-2773000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr7:2768000-2772200	Weak transcription	HUVEC	blood vessel
26	chr7:2768000-2772600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:2768400-2771400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:2768400-2771800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:2768400-2773000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:2768400-2773400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:2768400-2773600	Strong transcription	HepG2	liver
32	chr7:2768400-2776600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:2768600-2771400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:2768600-2772800	Weak transcription	Stomach Mucosa	stomach
35	chr7:2768600-2773600	Strong transcription	Primary T cells from cord blood	blood
36	chr7:2768800-2771600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:2768800-2772600	Weak transcription	Fetal Heart	heart
38	chr7:2768800-2773200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:2769000-2771400	Strong transcription	NHDF-Ad	bronchial
40	chr7:2769000-2771400	Strong transcription	NHEK	skin
41	chr7:2769000-2772000	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr7:2769000-2772200	Strong transcription	Liver	Liver
43	chr7:2769000-2772400	Strong transcription	Osteobl	bone
44	chr7:2769000-2772800	Weak transcription	NH-A	brain
45	chr7:2769000-2773200	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr7:2769200-2771400	Strong transcription	Gastric	stomach
47	chr7:2769400-2771400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:2769400-2772000	Weak transcription	Right Atrium	heart
49	chr7:2769600-2771400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr7:2769600-2771600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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