Variant report

Variant	rs149603378
Chromosome Location	chr7:104992547-104992548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104985604..104988009-chr7:104988661..104992551,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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
10	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv1034689	chr7:104950564-105085879	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	esv3512112	chr7:104992218-104992572	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3368604	chr7:104992226-104992573	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv2002456	chr7:104992262-104992616	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv4403	chr7:104992284-104992550	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104962800-104992600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:104973200-104998800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:104983000-104994000	Enhancers	Primary B cells from peripheral blood	blood
4	chr7:104983800-104992600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:104984000-104999200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:104984600-104996800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr7:104986600-104992600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:104986600-104992600	Weak transcription	Brain Angular Gyrus	brain
9	chr7:104986800-104992600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:104987000-104992600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:104987200-104992600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:104987200-104992600	Weak transcription	Pancreas	Pancrea
13	chr7:104987400-104992600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:104987400-104994000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:104987600-104992600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:104987800-104992600	Weak transcription	Left Ventricle	heart
17	chr7:104988000-104992600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:104988000-104993800	Weak transcription	Right Atrium	heart
19	chr7:104988200-104992800	Weak transcription	Fetal Heart	heart
20	chr7:104990000-104992600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:104990000-104997000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr7:104990200-104992600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:104990200-104995000	Enhancers	Fetal Muscle Trunk	muscle
24	chr7:104990400-104995400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr7:104990600-104992600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:104990600-104995200	Enhancers	Primary hematopoietic stem cells	blood
27	chr7:104990800-104996400	Enhancers	Fetal Muscle Leg	muscle
28	chr7:104991000-104993400	Enhancers	Psoas Muscle	Psoas
29	chr7:104991200-104992600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:104991200-104992800	Enhancers	Fetal Brain Male	brain
31	chr7:104991200-104993400	Enhancers	Fetal Stomach	stomach
32	chr7:104991200-104994000	Enhancers	Duodenum Mucosa	Duodenum
33	chr7:104991200-104995400	Enhancers	Stomach Mucosa	stomach
34	chr7:104991200-104996000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:104991200-104996200	Enhancers	Fetal Thymus	thymus
36	chr7:104991400-104992600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:104991400-104992600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:104991400-104992600	Enhancers	Brain Cingulate Gyrus	brain
39	chr7:104991400-104992600	Enhancers	Rectal Smooth Muscle	rectum
40	chr7:104991400-104993400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr7:104991400-104994600	Enhancers	Colon Smooth Muscle	Colon
42	chr7:104991400-104995200	Enhancers	Brain Anterior Caudate	brain
43	chr7:104991400-104995200	Enhancers	Thymus	Thymus
44	chr7:104991400-104995400	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:104991400-104996800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:104991400-104996800	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr7:104991600-104992600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:104991600-104992600	Weak transcription	Brain Hippocampus Middle	brain
49	chr7:104991600-104992600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr7:104991600-104992600	Weak transcription	Rectal Mucosa Donor 29	rectum

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