Variant report

Variant	rs8049428
Chromosome Location	chr16:74617423-74617424
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	chr16:74614853..74619138-chr16:74639431..74641226,5	MCF-7	breast:
2	chr16:74617206..74619538-chr16:74640456..74642639,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090863	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11648868	1.00[YRI][hapmap]
rs4438331	1.00[YRI][hapmap]
rs7194143	1.00[YRI][hapmap]
rs73610513	0.87[AFR][1000 genomes]
rs9932831	1.00[YRI][hapmap]

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	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1060629	chr16:74483574-74660669	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1062517	chr16:74483574-74710623	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv833279	chr16:74490746-74663073	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases
7	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
8	nsv906905	chr16:74527618-74679244	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74563200-74622400	Weak transcription	Fetal Stomach	stomach
2	chr16:74588200-74623200	Weak transcription	Primary B cells from cord blood	blood
3	chr16:74589800-74626800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr16:74591000-74624000	Weak transcription	Aorta	Aorta
5	chr16:74595000-74622600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr16:74598600-74622600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:74599600-74623400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:74605200-74617600	Weak transcription	Ovary	ovary
9	chr16:74605200-74630600	Weak transcription	Fetal Lung	lung
10	chr16:74605200-74639800	Weak transcription	Esophagus	oesophagus
11	chr16:74605600-74630200	Weak transcription	Fetal Intestine Large	intestine
12	chr16:74606800-74628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:74606800-74636800	Weak transcription	Lung	lung
14	chr16:74607000-74622400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr16:74608000-74617600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:74608400-74638200	Weak transcription	Fetal Brain Female	brain
17	chr16:74610000-74617600	Weak transcription	Right Atrium	heart
18	chr16:74610000-74617600	Weak transcription	Small Intestine	intestine
19	chr16:74610000-74628000	Weak transcription	Left Ventricle	heart
20	chr16:74610200-74630400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr16:74610600-74619000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr16:74611200-74619400	Weak transcription	Spleen	Spleen
23	chr16:74612000-74638600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr16:74612400-74626000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr16:74612600-74617600	Weak transcription	Brain Hippocampus Middle	brain
26	chr16:74612600-74620800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr16:74612600-74630200	Weak transcription	NHLF	lung
28	chr16:74612800-74617800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr16:74612800-74621800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:74613000-74617600	Weak transcription	Brain Anterior Caudate	brain
31	chr16:74613000-74617600	Weak transcription	Brain Substantia Nigra	brain
32	chr16:74613000-74618000	Weak transcription	Osteobl	bone
33	chr16:74613000-74622400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:74613000-74628400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr16:74613200-74617800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr16:74613200-74622400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr16:74613200-74628200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr16:74613200-74628400	Weak transcription	NHEK	skin
39	chr16:74613400-74620600	Weak transcription	Pancreas	Pancrea
40	chr16:74613400-74621000	Weak transcription	HepG2	liver
41	chr16:74614400-74628400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr16:74615000-74618400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:74615000-74630400	Weak transcription	Thymus	Thymus
44	chr16:74615000-74636800	Weak transcription	Psoas Muscle	Psoas
45	chr16:74615200-74618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr16:74615200-74628000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:74615200-74628400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr16:74615400-74618000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr16:74615400-74618000	Weak transcription	NHDF-Ad	bronchial
50	chr16:74615400-74622400	Weak transcription	Fetal Heart	heart

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