Variant report

Variant	rs564253750
Chromosome Location	chr4:8036963-8036964
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	chr4:8030441..8032567-chr4:8033404..8037009,3	K562	blood:
2	chr4:8024330..8026063-chr4:8034890..8037450,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273267	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv829851	chr4:7958698-8049060	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
6	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878580	chr4:8012167-8045469	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv470009	chr4:8015421-8085174	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv878581	chr4:8021592-8100272	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv878582	chr4:8023484-8047973	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv878583	chr4:8023484-8049713	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv878584	chr4:8023484-8075134	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv878585	chr4:8023484-8116202	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv878586	chr4:8023484-8148159	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv593624	chr4:8026176-8047973	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv878587	chr4:8031471-8075134	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv878588	chr4:8034772-8070793	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv878589	chr4:8034772-8089598	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	esv3416015	chr4:8035502-8037900	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3323594	chr4:8036952-8041450	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8010600-8052000	Weak transcription	Left Ventricle	heart
2	chr4:8012400-8039000	Weak transcription	Gastric	stomach
3	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
4	chr4:8022000-8037600	Weak transcription	Lung	lung
5	chr4:8022200-8040600	Weak transcription	Fetal Brain Female	brain
6	chr4:8022400-8039000	Weak transcription	Brain Angular Gyrus	brain
7	chr4:8023200-8039600	Weak transcription	Brain Germinal Matrix	brain
8	chr4:8023200-8041000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:8023800-8037200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:8023800-8041200	Weak transcription	Brain Substantia Nigra	brain
11	chr4:8029800-8046600	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:8030400-8039200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:8030800-8037600	Weak transcription	Fetal Intestine Small	intestine
14	chr4:8031200-8052000	Weak transcription	Psoas Muscle	Psoas
15	chr4:8033400-8037000	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:8034600-8039000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:8035000-8039400	Strong transcription	Pancreas	Pancrea
18	chr4:8035400-8038000	Genic enhancers	Spleen	Spleen
19	chr4:8035600-8038000	Strong transcription	Aorta	Aorta
20	chr4:8036200-8037000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:8036200-8040800	Weak transcription	Brain Anterior Caudate	brain
22	chr4:8036200-8045000	Weak transcription	Esophagus	oesophagus
23	chr4:8036600-8038000	Strong transcription	Right Ventricle	heart
24	chr4:8036800-8037000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:8036800-8037400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr4:8036800-8037400	Enhancers	GM12878-XiMat	blood
27	chr4:8036800-8037600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr4:8036800-8037600	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr4:8036800-8037600	Enhancers	Dnd41	blood
30	chr4:8036800-8037800	Enhancers	Primary B cells from peripheral blood	blood
31	chr4:8036800-8037800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:8036800-8037800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:8036800-8037800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:8036800-8037800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr4:8036800-8037800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:8036800-8037800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:8036800-8037800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr4:8036800-8038000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:8036800-8038000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr4:8036800-8038000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:8036800-8038000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:8036800-8038000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:8036800-8038000	Enhancers	HSMM	muscle
44	chr4:8036800-8038000	Enhancers	Osteobl	bone
45	chr4:8036800-8038200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:8036800-8038200	Enhancers	HMEC	breast
47	chr4:8036800-8038600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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