Variant report

Variant	rs568809189
Chromosome Location	chr3:121356234-121356235
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121355706..121357313-chr3:121467523..121469117,2	K562	blood:

Variant related genes	Relation type
ENSG00000173230	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers 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	50 gene(s)	inside rSNPs	diseases
3	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv999349	chr3:121253990-121360206	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv998740	chr3:121289499-121390271	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121345600-121376800	Weak transcription	Esophagus	oesophagus
2	chr3:121347000-121378000	Weak transcription	Right Ventricle	heart
3	chr3:121347200-121364400	Strong transcription	Primary B cells from cord blood	blood
4	chr3:121347400-121367200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:121347600-121359400	Strong transcription	Primary T cells from cord blood	blood
6	chr3:121347600-121364600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr3:121347600-121364600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:121347600-121364600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr3:121347800-121364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:121348000-121364600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr3:121348000-121364600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr3:121348000-121381800	Weak transcription	Aorta	Aorta
13	chr3:121348200-121364600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr3:121348400-121357400	Strong transcription	Spleen	Spleen
15	chr3:121348400-121364600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:121348400-121364600	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr3:121348800-121358600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:121348800-121363000	Weak transcription	Left Ventricle	heart
19	chr3:121348800-121364400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:121348800-121367200	Weak transcription	Pancreas	Pancrea
21	chr3:121349000-121356600	Weak transcription	Brain Anterior Caudate	brain
22	chr3:121349000-121359000	Strong transcription	Primary hematopoietic stem cells	blood
23	chr3:121349000-121364600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr3:121349000-121364600	Strong transcription	Dnd41	blood
25	chr3:121349000-121378000	Weak transcription	Fetal Stomach	stomach
26	chr3:121349200-121359200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr3:121349200-121362000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:121349200-121364200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:121349400-121364600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr3:121349400-121367000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr3:121349600-121358600	Strong transcription	Thymus	Thymus
32	chr3:121349600-121364600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:121349800-121359400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr3:121349800-121367000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr3:121350000-121357400	Strong transcription	Liver	Liver
36	chr3:121350000-121364600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:121350000-121364600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr3:121350200-121357400	Strong transcription	Placenta	Placenta
39	chr3:121350400-121357400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr3:121351000-121364600	Strong transcription	GM12878-XiMat	blood
41	chr3:121351000-121382800	Weak transcription	Small Intestine	intestine
42	chr3:121351400-121381400	Weak transcription	Gastric	stomach
43	chr3:121351600-121360800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:121351800-121358600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr3:121351800-121370400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:121352800-121357000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr3:121353400-121356600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:121353400-121364400	Strong transcription	Fetal Thymus	thymus
49	chr3:121353400-121376000	Weak transcription	Lung	lung
50	chr3:121354000-121381000	Weak transcription	Fetal Intestine Small	intestine

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