Variant report

Variant	rs371414088
Chromosome Location	chr4:8031474-8031475
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8027811..8029629-chr4:8031244..8032843,2	K562	blood:
2	chr4:8030441..8032567-chr4:8033404..8037009,3	K562	blood:
3	chr4:8030886..8034532-chr4:8039153..8041983,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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

No data

Chromatin state (count:42 , 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	chr4:8012800-8035000	Weak transcription	Pancreas	Pancrea
4	chr4:8013000-8036600	Weak transcription	Right Ventricle	heart
5	chr4:8017400-8040400	Weak transcription	Right Atrium	heart
6	chr4:8022000-8037600	Weak transcription	Lung	lung
7	chr4:8022200-8040600	Weak transcription	Fetal Brain Female	brain
8	chr4:8022400-8035400	Weak transcription	Brain Anterior Caudate	brain
9	chr4:8022400-8039000	Weak transcription	Brain Angular Gyrus	brain
10	chr4:8023200-8039600	Weak transcription	Brain Germinal Matrix	brain
11	chr4:8023200-8041000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:8023800-8037200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:8023800-8041200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:8025800-8031800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:8028800-8035600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:8029200-8031600	Weak transcription	HSMMtube	muscle
17	chr4:8029200-8031800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:8029200-8035400	Strong transcription	Spleen	Spleen
19	chr4:8029800-8046600	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:8030000-8031800	Weak transcription	Aorta	Aorta
21	chr4:8030400-8039200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:8030600-8033800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr4:8030800-8031800	Enhancers	HMEC	breast
24	chr4:8030800-8037600	Weak transcription	Fetal Intestine Small	intestine
25	chr4:8031000-8031600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr4:8031000-8031600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:8031000-8031800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:8031000-8032000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:8031000-8032200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr4:8031000-8032800	Genic enhancers	Esophagus	oesophagus
31	chr4:8031200-8031600	Enhancers	NHEK	skin
32	chr4:8031200-8032400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:8031200-8032600	Enhancers	Fetal Muscle Leg	muscle
34	chr4:8031200-8032600	Enhancers	HSMM	muscle
35	chr4:8031200-8052000	Weak transcription	Psoas Muscle	Psoas
36	chr4:8031400-8031800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:8031400-8032200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr4:8031400-8032400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:8031400-8032400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:8031400-8032600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:8031400-8033000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr4:8031400-8033400	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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