Variant report

Variant	rs567236082
Chromosome Location	chr14:105541615-105541616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:105523701..105528430-chr14:105538405..105542749,4	K562	blood:
2	chr14:105532364..105534245-chr14:105540275..105543125,2	K562	blood:
3	chr14:105539179..105546592-chr14:105547833..105554421,6	K562	blood:
4	chr14:105539437..105542411-chr14:105625371..105627547,2	K562	blood:
5	chr14:105532364..105534497-chr14:105539681..105543125,3	K562	blood:
6	chr14:105540338..105543135-chr14:105547217..105549432,3	K562	blood:

Variant related genes	Relation type
ENSG00000183484	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription 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 miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv456457	chr14:105404384-105555396	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	nsv566141	chr14:105404384-105555396	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv902421	chr14:105410183-105574843	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
8	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
9	nsv1052190	chr14:105423761-105722653	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS 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 miRNA target site	88 gene(s)	inside rSNPs	diseases
11	nsv1042303	chr14:105435649-105633544	Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
12	nsv456458	chr14:105435649-105690092	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv566150	chr14:105435649-105690092	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
15	nsv566151	chr14:105459140-105555396	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	nsv456459	chr14:105459140-105617891	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
17	nsv566152	chr14:105459140-105617891	Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
18	nsv902425	chr14:105463936-105690092	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
19	nsv9175	chr14:105496509-105688941	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
20	nsv902427	chr14:105508577-105585347	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
21	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
22	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
23	nsv902428	chr14:105531945-105555396	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	esv3376546	chr14:105540532-105543080	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv3401905	chr14:105540807-105542805	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	esv3409271	chr14:105541400-105541776	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	esv3530484	chr14:105541415-105541748	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	esv3530485	chr14:105541415-105541748	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv3450654	chr14:105541451-105541683	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105528800-105542000	Weak transcription	Right Atrium	heart
2	chr14:105531400-105542800	Weak transcription	Gastric	stomach
3	chr14:105536800-105541800	Weak transcription	NH-A	brain
4	chr14:105537200-105541800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:105537200-105542000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:105537200-105542000	Weak transcription	K562	blood
7	chr14:105538000-105541800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:105538200-105541800	Weak transcription	Primary B cells from cord blood	blood
9	chr14:105539000-105542000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr14:105539000-105542200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:105540400-105541800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:105540400-105542000	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:105540400-105542000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:105540400-105542600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr14:105540400-105544000	Bivalent Enhancer	Placenta	Placenta
16	chr14:105540400-105544400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:105540400-105544400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:105540400-105544400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr14:105540600-105541800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:105540600-105541800	Enhancers	GM12878-XiMat	blood
21	chr14:105540600-105543000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:105540600-105543000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr14:105540600-105543800	Enhancers	Fetal Muscle Leg	muscle
24	chr14:105540600-105544200	Enhancers	Primary B cells from peripheral blood	blood
25	chr14:105540600-105544600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:105540800-105541800	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr14:105540800-105543200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr14:105540800-105543400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr14:105540800-105543600	Enhancers	Fetal Thymus	thymus
30	chr14:105541000-105541800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr14:105541000-105541800	Bivalent Enhancer	Fetal Stomach	stomach
32	chr14:105541000-105542200	Enhancers	Esophagus	oesophagus
33	chr14:105541000-105542400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr14:105541000-105542400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:105541000-105542400	Enhancers	HMEC	breast
36	chr14:105541000-105542600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr14:105541000-105542600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr14:105541000-105542600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:105541000-105544000	Enhancers	Spleen	Spleen
40	chr14:105541000-105544600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:105541000-105544800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr14:105541000-105544800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr14:105541200-105542000	Enhancers	Liver	Liver
44	chr14:105541200-105542000	Bivalent Enhancer	NHEK	skin
45	chr14:105541200-105542200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr14:105541200-105542200	Weak transcription	Left Ventricle	heart
47	chr14:105541200-105542200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
48	chr14:105541200-105542400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:105541200-105542600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr14:105541200-105542600	Enhancers	HSMMtube	muscle

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