Variant report

Variant	rs537506543
Chromosome Location	chr14:21947201-21947202
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21944743..21947528-chr14:21994092..21996767,2	MCF-7	breast:
2	chr14:21923260..21925455-chr14:21943748..21947334,4	K562	blood:
3	chr14:21922721..21925394-chr14:21943917..21947287,10	MCF-7	breast:
4	chr14:21922608..21930261-chr14:21941288..21947915,21	MCF-7	breast:
5	chr14:21943174..21947446-chr14:21976603..21980796,8	K562	blood:
6	chr14:21945641..21947338-chr14:21977414..21979762,2	K562	blood:
7	chr14:21944239..21947571-chr14:21970430..21973821,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165821	Chromatin interaction
ENSG00000165819	Chromatin interaction
ENSG00000100888	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	esv994931	chr14:21947144-21956367	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21946000-21960600	Weak transcription	Small Intestine	intestine
2	chr14:21946200-21947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:21946200-21947400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:21946200-21949200	Weak transcription	Esophagus	oesophagus
5	chr14:21946200-21949200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:21946200-21955600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:21946200-21955600	Weak transcription	Gastric	stomach
8	chr14:21946200-21955600	Weak transcription	Left Ventricle	heart
9	chr14:21946200-21955600	Weak transcription	Ovary	ovary
10	chr14:21946200-21955600	Weak transcription	Thymus	Thymus
11	chr14:21946200-21977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:21946400-21947400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr14:21946400-21947400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:21946400-21948200	Weak transcription	HSMM	muscle
15	chr14:21946400-21948800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:21946400-21952000	Weak transcription	Lung	lung
17	chr14:21946400-21952600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:21946400-21952800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:21946400-21955400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:21946400-21955600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:21946400-21958000	Weak transcription	Pancreas	Pancrea
22	chr14:21946400-21958800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:21946400-21960800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:21946400-21971400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:21946600-21947400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:21946600-21947600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:21946600-21947600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:21946600-21947600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:21946600-21947800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:21946600-21947800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:21946600-21947800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:21946600-21948000	Weak transcription	Placenta	Placenta
33	chr14:21946600-21949200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:21946600-21949200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:21946600-21949400	Weak transcription	Brain Anterior Caudate	brain
36	chr14:21946600-21949400	Weak transcription	Fetal Kidney	kidney
37	chr14:21946600-21949600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:21946600-21950400	Weak transcription	Primary B cells from cord blood	blood
39	chr14:21946600-21954600	Weak transcription	HSMMtube	muscle
40	chr14:21946600-21954800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr14:21946600-21954800	Weak transcription	K562	blood
42	chr14:21946600-21955000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:21946600-21955000	Weak transcription	Fetal Thymus	thymus
44	chr14:21946600-21955400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:21946600-21955400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr14:21946600-21955600	Weak transcription	Brain Germinal Matrix	brain
47	chr14:21946600-21955600	Weak transcription	Colonic Mucosa	Colon
48	chr14:21946600-21955600	Weak transcription	Fetal Muscle Leg	muscle
49	chr14:21946600-21955600	Weak transcription	Psoas Muscle	Psoas
50	chr14:21946600-21955600	Weak transcription	Right Ventricle	heart

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