Variant report

Variant	rs567394999
Chromosome Location	chr1:228339788-228339789
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228288459..228290327-chr1:228338206..228340411,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS 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 miRNA target site	133 gene(s)	inside rSNPs	diseases
8	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription 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 miRNA target site	106 gene(s)	inside rSNPs	diseases
9	nsv873256	chr1:228322826-228359775	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
10	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
11	nsv549288	chr1:228327659-228363750	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv549289	chr1:228327999-228371098	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
13	nsv549290	chr1:228333652-228349806	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv873258	chr1:228334088-228359775	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
15	nsv873259	chr1:228334277-228359775	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
16	nsv873260	chr1:228334277-228371098	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
17	nsv549291	chr1:228338939-228350774	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	nsv873261	chr1:228338939-228359775	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228331400-228341800	Weak transcription	Psoas Muscle	Psoas
2	chr1:228331600-228341000	Genic enhancers	Fetal Thymus	thymus
3	chr1:228332800-228349800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:228333200-228342200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:228333200-228344600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:228333800-228350400	Weak transcription	Primary B cells from cord blood	blood
7	chr1:228334200-228340000	Genic enhancers	Spleen	Spleen
8	chr1:228335800-228339800	Enhancers	Fetal Lung	lung
9	chr1:228336000-228342000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:228336600-228340400	Enhancers	Fetal Heart	heart
11	chr1:228336600-228341600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:228336600-228342000	Weak transcription	Primary T cells from cord blood	blood
13	chr1:228336800-228340000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:228336800-228350200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:228337000-228339800	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr1:228337000-228341800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:228337000-228342200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:228337000-228343000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:228337200-228339800	Enhancers	K562	blood
20	chr1:228337200-228340000	Enhancers	Fetal Muscle Leg	muscle
21	chr1:228337200-228340400	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:228337200-228342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:228337200-228344400	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:228337400-228340800	Weak transcription	Dnd41	blood
25	chr1:228337400-228343000	Weak transcription	Brain Germinal Matrix	brain
26	chr1:228337600-228343600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:228337800-228339800	Enhancers	Ovary	ovary
28	chr1:228337800-228340200	Enhancers	Fetal Intestine Large	intestine
29	chr1:228337800-228341800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:228337800-228342000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:228337800-228342200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:228337800-228343200	Weak transcription	A549	lung
33	chr1:228337800-228349800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:228338000-228339800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr1:228338000-228340200	Enhancers	Hela-S3	cervix
36	chr1:228338000-228342200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:228338000-228343600	Weak transcription	Fetal Brain Female	brain
38	chr1:228338000-228344000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:228338000-228349200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:228338000-228349600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:228338200-228340200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:228338200-228340400	Enhancers	Placenta	Placenta
43	chr1:228338200-228342000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr1:228338200-228342800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:228338200-228344800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:228338200-228344800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:228338200-228352400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:228338400-228340400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:228338400-228349200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:228338600-228343000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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