Variant report

Variant	rs544951390
Chromosome Location	chr16:47195118-47195119
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	chr16:47184664..47186977-chr16:47194583..47196786,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers 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 target site	65 gene(s)	inside rSNPs	diseases
3	esv1798659	chr16:47083332-47234379	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv1795199	chr16:47111119-47732476	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803802	chr16:47115776-47367144	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv906660	chr16:47123724-47347780	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1059763	chr16:47147194-47373834	ZNF genes & repeats Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv528423	chr16:47163874-47347780	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	esv1821100	chr16:47171333-47330244	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	esv1801639	chr16:47177234-47224693	Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	esv1801751	chr16:47177234-47224693	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv1838902	chr16:47177234-47234379	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
13	esv1850542	chr16:47177234-47234379	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
14	esv1795119	chr16:47177300-47224693	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	esv1841006	chr16:47177300-47271876	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
16	esv1848820	chr16:47177300-47271876	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	esv1799115	chr16:47177338-47224693	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
18	esv1801259	chr16:47188507-47252682	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
19	nsv525170	chr16:47194051-47303635	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47178800-47195200	Weak transcription	Gastric	stomach
2	chr16:47178800-47196200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:47178800-47196200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr16:47178800-47196200	Weak transcription	Esophagus	oesophagus
5	chr16:47178800-47196400	Weak transcription	Fetal Brain Female	brain
6	chr16:47178800-47197200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr16:47178800-47197200	Weak transcription	HSMMtube	muscle
8	chr16:47178800-47198200	Weak transcription	Right Ventricle	heart
9	chr16:47178800-47198400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:47178800-47211600	Weak transcription	Pancreas	Pancrea
11	chr16:47178800-47231400	Weak transcription	Psoas Muscle	Psoas
12	chr16:47178800-47296600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:47179000-47197600	Weak transcription	Osteobl	bone
14	chr16:47179000-47204600	Weak transcription	Brain Angular Gyrus	brain
15	chr16:47180200-47197000	Weak transcription	Colon Smooth Muscle	Colon
16	chr16:47182000-47197000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr16:47184600-47197000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr16:47185800-47195600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr16:47186600-47231400	Weak transcription	Aorta	Aorta
20	chr16:47186800-47196800	Weak transcription	Small Intestine	intestine
21	chr16:47187200-47195800	Weak transcription	Fetal Kidney	kidney
22	chr16:47187400-47216200	Weak transcription	HepG2	liver
23	chr16:47187400-47216400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr16:47187600-47196800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:47187800-47197200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr16:47187800-47199600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr16:47187800-47199800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr16:47187800-47202400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr16:47187800-47212200	Weak transcription	Thymus	Thymus
30	chr16:47187800-47223800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr16:47187800-47243800	Weak transcription	HSMM	muscle
32	chr16:47188000-47197400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr16:47188000-47199800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr16:47188200-47196200	Weak transcription	NHEK	skin
35	chr16:47188200-47197400	Weak transcription	Fetal Muscle Leg	muscle
36	chr16:47188200-47197800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr16:47188200-47200000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr16:47188200-47209000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr16:47188400-47202400	Weak transcription	Fetal Intestine Small	intestine
40	chr16:47189200-47196800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr16:47189800-47204600	Weak transcription	Hela-S3	cervix
42	chr16:47190400-47195800	Strong transcription	Primary B cells from cord blood	blood
43	chr16:47190600-47195800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:47191200-47195800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:47191200-47196400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr16:47191200-47197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr16:47191200-47199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr16:47191200-47213200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr16:47191200-47221400	Weak transcription	K562	blood
50	chr16:47191600-47196000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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