Variant report

Variant	rs377244976
Chromosome Location	chr17:45998776-45998777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45998420..46000052-chr17:46002158..46004611,2	K562	blood:
2	chr17:45992709..45994396-chr17:45996856..45998957,2	MCF-7	breast:
3	chr17:45973265..45977043-chr17:45998491..46003792,7	MCF-7	breast:
4	chr17:45991986..45994660-chr17:45998582..46001397,3	K562	blood:
5	chr17:45990771..45994045-chr17:45997430..46001241,5	MCF-7	breast:
6	chr17:45981911..45983503-chr17:45998627..46000923,2	K562	blood:
7	chr17:45997083..45999024-chr17:46022042..46024143,2	MCF-7	breast:
8	chr17:45993823..45996426-chr17:45998099..46000336,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263798	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000108439	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
4	nsv1062503	chr17:45977445-46021384	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv2072	chr17:45998637-46019626	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45975200-45999400	Weak transcription	Fetal Kidney	kidney
2	chr17:45975200-46000400	Weak transcription	Small Intestine	intestine
3	chr17:45975800-46000600	Weak transcription	Hela-S3	cervix
4	chr17:45979800-46000400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:45980200-46001800	Weak transcription	K562	blood
6	chr17:45980200-46002400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:45980200-46006400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:45982400-46000600	Weak transcription	Stomach Mucosa	stomach
9	chr17:45983000-46001000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:45983000-46004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:45983200-46000400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:45983200-46001200	Weak transcription	A549	lung
13	chr17:45983200-46018200	Weak transcription	Fetal Brain Male	brain
14	chr17:45983400-46000600	Weak transcription	NHDF-Ad	bronchial
15	chr17:45984200-46000600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:45985600-46000600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr17:45986000-46000400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr17:45987000-46000200	Weak transcription	Aorta	Aorta
19	chr17:45988400-46000400	Weak transcription	Brain Substantia Nigra	brain
20	chr17:45988400-46000600	Weak transcription	HSMM	muscle
21	chr17:45991800-46000400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr17:45991800-46006400	Strong transcription	Fetal Stomach	stomach
23	chr17:45992400-46008400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:45992600-46000400	Weak transcription	HSMMtube	muscle
25	chr17:45993400-46000400	Weak transcription	NH-A	brain
26	chr17:45993600-46000600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:45993800-46017400	Weak transcription	Psoas Muscle	Psoas
28	chr17:45994000-46000600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr17:45994000-46013200	Weak transcription	Fetal Heart	heart
30	chr17:45994200-46000400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr17:45994200-46000400	Weak transcription	Left Ventricle	heart
32	chr17:45994200-46006000	Strong transcription	Fetal Muscle Trunk	muscle
33	chr17:45994400-46000200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:45994400-46000400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:45994400-46000400	Weak transcription	Gastric	stomach
36	chr17:45994400-46002400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:45994400-46006000	Strong transcription	Fetal Muscle Leg	muscle
38	chr17:45994600-45999000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr17:45994600-45999000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr17:45994600-46000000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:45994600-46000000	Weak transcription	Lung	lung
42	chr17:45994600-46000000	Weak transcription	NHLF	lung
43	chr17:45994600-46000200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:45994600-46000200	Weak transcription	Colonic Mucosa	Colon
45	chr17:45994600-46000200	Weak transcription	Right Ventricle	heart
46	chr17:45994600-46000400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr17:45994600-46000400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:45994600-46000400	Weak transcription	Colon Smooth Muscle	Colon
49	chr17:45994600-46000400	Weak transcription	Esophagus	oesophagus
50	chr17:45994600-46000400	Weak transcription	Pancreas	Pancrea

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