Variant report

Variant	rs551731941
Chromosome Location	chr1:228424396-228424397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228422842..228425682-chr1:228644197..228645986,2	K562	blood:
2	chr1:228423250..228427133-chr1:228428508..228431857,5	K562	blood:
3	chr1:228400950..228401751-chr1:228424271..228424803,2	MCF-7	breast:
4	chr1:228422838..228424736-chr1:228473654..228476445,2	MCF-7	breast:
5	chr1:228416742..228420360-chr1:228423118..228426158,4	K562	blood:
6	chr1:228420796..228422306-chr1:228424173..228426146,2	MCF-7	breast:
7	chr1:228423649..228426187-chr1:228554290..228557913,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162913	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000196890	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
5	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
6	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
7	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
8	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
9	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv873264	chr1:228423647-228543800	Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv520340	chr1:228423936-228456147	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv3372505	chr1:228424229-228428827	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228402200-228425800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:228402200-228428800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:228403000-228428200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:228413000-228425600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:228413000-228426000	Weak transcription	Right Atrium	heart
6	chr1:228413000-228428400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:228413000-228428800	Weak transcription	Gastric	stomach
8	chr1:228413200-228424400	Weak transcription	Brain Anterior Caudate	brain
9	chr1:228413200-228426200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:228413400-228426000	Weak transcription	Fetal Brain Male	brain
11	chr1:228413600-228428800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:228413800-228428600	Weak transcription	Pancreas	Pancrea
13	chr1:228413800-228429000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:228414400-228426000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:228414400-228426200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:228414400-228430400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:228415200-228426000	Weak transcription	Spleen	Spleen
18	chr1:228415800-228426000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:228416200-228424400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:228416200-228426000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:228416600-228426000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:228416800-228424600	Weak transcription	Fetal Thymus	thymus
23	chr1:228416800-228426000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:228417000-228424400	Weak transcription	Fetal Brain Female	brain
25	chr1:228417000-228426000	Weak transcription	HSMM	muscle
26	chr1:228417200-228433000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:228418000-228426000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr1:228418400-228436000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:228419600-228429600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:228419800-228424600	ZNF genes & repeats	Primary T cells from cord blood	blood
31	chr1:228420200-228426000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:228420400-228425400	Weak transcription	Right Ventricle	heart
33	chr1:228420400-228425600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:228420400-228426000	Weak transcription	Fetal Kidney	kidney
35	chr1:228420400-228426200	Weak transcription	HSMMtube	muscle
36	chr1:228420600-228424400	Weak transcription	Brain Germinal Matrix	brain
37	chr1:228420600-228424400	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:228420800-228424400	Weak transcription	Fetal Intestine Small	intestine
39	chr1:228420800-228424400	Weak transcription	Left Ventricle	heart
40	chr1:228420800-228424400	Weak transcription	Thymus	Thymus
41	chr1:228420800-228425200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:228420800-228425600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:228420800-228425600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:228420800-228425600	Weak transcription	Fetal Stomach	stomach
45	chr1:228420800-228425800	Weak transcription	Fetal Intestine Large	intestine
46	chr1:228420800-228426000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:228420800-228426000	Weak transcription	Lung	lung
48	chr1:228420800-228426000	Weak transcription	Psoas Muscle	Psoas
49	chr1:228420800-228426200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:228420800-228428400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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