Variant report

Variant	rs74030218
Chromosome Location	chr16:73075179-73075180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:73071423..73073187-chr16:73073928..73075766,2	K562	blood:
2	chr16:73040434..73043104-chr16:73074048..73076727,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr16:73055200-73076400	Weak transcription	Brain Angular Gyrus	brain
2	chr16:73059400-73076400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr16:73067000-73079200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:73067200-73078400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr16:73067800-73081400	Weak transcription	Small Intestine	intestine
6	chr16:73068000-73077400	Weak transcription	NHDF-Ad	bronchial
7	chr16:73068400-73078000	Weak transcription	Hela-S3	cervix
8	chr16:73069400-73076800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr16:73070000-73076400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:73070200-73075600	Enhancers	Fetal Kidney	kidney
11	chr16:73070400-73080400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr16:73070600-73076800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:73070600-73077000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:73070800-73076400	Weak transcription	Brain Substantia Nigra	brain
15	chr16:73071000-73079800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:73071200-73081200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr16:73071400-73076200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:73071600-73076600	Weak transcription	Right Ventricle	heart
19	chr16:73071600-73081200	Weak transcription	Esophagus	oesophagus
20	chr16:73072000-73076200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:73072000-73076200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr16:73072000-73076200	Enhancers	GM12878-XiMat	blood
23	chr16:73072000-73077800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr16:73072200-73075600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr16:73072200-73076200	Weak transcription	HSMMtube	muscle
26	chr16:73072200-73076400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr16:73072200-73076400	Weak transcription	HSMM	muscle
28	chr16:73072200-73077400	Weak transcription	NH-A	brain
29	chr16:73072200-73080000	Weak transcription	Stomach Mucosa	stomach
30	chr16:73072400-73075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr16:73072400-73076400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:73072400-73076400	Weak transcription	Left Ventricle	heart
33	chr16:73072400-73076400	Weak transcription	Right Atrium	heart
34	chr16:73072400-73076800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:73072400-73077000	Weak transcription	NHLF	lung
36	chr16:73072400-73078200	Weak transcription	Gastric	stomach
37	chr16:73072400-73080000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr16:73072400-73080800	Weak transcription	Spleen	Spleen
39	chr16:73072600-73077000	Weak transcription	Fetal Heart	heart
40	chr16:73072600-73077600	Weak transcription	Liver	Liver
41	chr16:73072600-73077600	Weak transcription	Fetal Intestine Large	intestine
42	chr16:73072600-73080200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:73073200-73076200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr16:73073400-73075200	Enhancers	Stomach Smooth Muscle	stomach
45	chr16:73074000-73075200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr16:73074000-73076200	Weak transcription	Fetal Muscle Leg	muscle
47	chr16:73074200-73075200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
48	chr16:73074200-73075400	Weak transcription	Colon Smooth Muscle	Colon
49	chr16:73074200-73077600	Weak transcription	A549	lung
50	chr16:73074200-73079000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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