Variant report

Variant	rs241376
Chromosome Location	chr16:74779835-74779836
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	chr16:74772348..74775315-chr16:74779587..74782005,2	K562	blood:

Variant related genes	Relation type
ENSG00000103089	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs241377	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4999690	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
5	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
6	nsv906906	chr16:74664743-74805668	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv906907	chr16:74702254-74785902	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
9	nsv517513	chr16:74743736-74812676	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
10	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
13	nsv457520	chr16:74758984-74907440	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv572976	chr16:74758984-74907440	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74764000-74781800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr16:74769200-74783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:74769400-74782800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr16:74772400-74783400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:74774000-74781800	Enhancers	Brain Hippocampus Middle	brain
6	chr16:74775000-74782800	Weak transcription	Esophagus	oesophagus
7	chr16:74775200-74784800	Enhancers	Brain Substantia Nigra	brain
8	chr16:74775400-74782000	Enhancers	Brain Cingulate Gyrus	brain
9	chr16:74776200-74783600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr16:74776400-74782000	Enhancers	Brain Angular Gyrus	brain
11	chr16:74776800-74782000	Enhancers	Brain Anterior Caudate	brain
12	chr16:74777600-74780000	Enhancers	Fetal Intestine Large	intestine
13	chr16:74777600-74781400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:74777600-74783200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr16:74777600-74802400	Weak transcription	Thymus	Thymus
16	chr16:74777800-74781600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:74777800-74781800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr16:74777800-74781800	Weak transcription	Fetal Thymus	thymus
19	chr16:74777800-74782800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:74777800-74783000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr16:74778000-74780000	Enhancers	Duodenum Mucosa	Duodenum
22	chr16:74778000-74782200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr16:74778000-74783400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr16:74778000-74783600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr16:74778200-74780000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr16:74778200-74781600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr16:74778200-74783000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:74778400-74783400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:74778600-74782000	Enhancers	A549	lung
30	chr16:74778600-74784800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr16:74779000-74780200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:74779000-74780800	Enhancers	GM12878-XiMat	blood
33	chr16:74779200-74780200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:74779400-74780000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr16:74779400-74780000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:74779400-74780200	Enhancers	Fetal Intestine Small	intestine
37	chr16:74779600-74780200	Enhancers	Stomach Mucosa	stomach
38	chr16:74779600-74780800	Weak transcription	Hela-S3	cervix
39	chr16:74779600-74781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr16:74779600-74782800	Weak transcription	HMEC	breast
41	chr16:74779600-74783400	Weak transcription	Gastric	stomach
42	chr16:74779600-74783800	Weak transcription	NHLF	lung
43	chr16:74779600-74792800	Weak transcription	Pancreas	Pancrea
44	chr16:74779600-74803800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr16:74779600-74805400	Weak transcription	Colonic Mucosa	Colon
46	chr16:74779800-74780000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:74779800-74782400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr16:74779800-74783000	Weak transcription	NHEK	skin

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