Variant report

Variant	rs74017944
Chromosome Location	chr16:48408155-48408156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48408084..48410643-chr16:48417008..48420171,3	MCF-7	breast:
2	chr16:48404265..48407102-chr16:48407318..48409979,3	K562	blood:
3	chr16:48398867..48402806-chr16:48404522..48408280,4	MCF-7	breast:
4	chr16:48393963..48396580-chr16:48406988..48408957,2	K562	blood:
5	chr16:48406174..48409195-chr16:48411058..48414705,6	K562	blood:
6	chr16:48406348..48408797-chr16:48412397..48415717,4	MCF-7	breast:
7	chr16:48407326..48411572-chr16:48416676..48420468,6	MCF-7	breast:
8	chr16:48407075..48409402-chr16:48409730..48412041,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196470	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9928988	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv1802902	chr16:48394626-48419662	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv1836876	chr16:48395527-48459558	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	esv1842331	chr16:48395527-48459558	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48400200-48409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:48400600-48417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:48400800-48417800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:48401000-48412600	Weak transcription	Thymus	Thymus
5	chr16:48401200-48409000	Weak transcription	Gastric	stomach
6	chr16:48401400-48408400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr16:48401400-48408400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr16:48401600-48412400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr16:48401800-48408600	Weak transcription	Primary T cells from cord blood	blood
10	chr16:48401800-48408800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:48401800-48410000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr16:48402200-48412600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:48402400-48408800	Weak transcription	GM12878-XiMat	blood
14	chr16:48402800-48410000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr16:48403200-48415000	Enhancers	Adipose Nuclei	Adipose
16	chr16:48404400-48408400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr16:48404800-48411200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:48404800-48411600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:48404800-48417200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr16:48405000-48409200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:48405000-48409400	Enhancers	Fetal Lung	lung
22	chr16:48405000-48410000	Enhancers	Fetal Heart	heart
23	chr16:48405200-48408800	Weak transcription	Pancreas	Pancrea
24	chr16:48405200-48409200	Enhancers	Osteobl	bone
25	chr16:48405200-48411400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:48405200-48412000	Weak transcription	Lung	lung
27	chr16:48405600-48408200	Enhancers	Fetal Brain Male	brain
28	chr16:48405600-48409800	Enhancers	Brain Substantia Nigra	brain
29	chr16:48405600-48411400	Enhancers	Colon Smooth Muscle	Colon
30	chr16:48405800-48409200	Enhancers	Brain Cingulate Gyrus	brain
31	chr16:48406000-48410000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr16:48406400-48408800	Enhancers	Brain Germinal Matrix	brain
33	chr16:48406400-48409400	Enhancers	Brain Anterior Caudate	brain
34	chr16:48406400-48410000	Enhancers	Brain Hippocampus Middle	brain
35	chr16:48406400-48410000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr16:48406400-48416800	Enhancers	Liver	Liver
37	chr16:48406600-48408600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:48406600-48409200	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr16:48406600-48409200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr16:48406600-48409800	Enhancers	Brain Angular Gyrus	brain
41	chr16:48406600-48409800	Enhancers	Small Intestine	intestine
42	chr16:48406600-48417200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:48406800-48408200	Enhancers	A549	lung
44	chr16:48406800-48408400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr16:48406800-48408400	Enhancers	HMEC	breast
46	chr16:48406800-48409000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:48406800-48409000	Enhancers	HSMMtube	muscle
48	chr16:48406800-48409200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr16:48406800-48409200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr16:48406800-48409200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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