Variant report

Variant	rs7189248
Chromosome Location	chr16:70769266-70769267
allele	C/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70729394..70732847-chr16:70769132..70771292,3	K562	blood:
2	chr16:70763729..70766674-chr16:70767583..70772048,4	K562	blood:
3	chr16:70717596..70719954-chr16:70769240..70771432,3	K562	blood:
4	chr16:70713079..70721608-chr16:70767367..70776352,14	MCF-7	breast:
5	chr16:70769195..70771802-chr16:70778228..70780922,2	K562	blood:
6	chr16:70753099..70755239-chr16:70768073..70771716,3	MCF-7	breast:
7	chr16:70714806..70720740-chr16:70769240..70775659,10	K562	blood:
8	chr16:70751340..70753059-chr16:70768605..70771567,2	MCF-7	breast:
9	chr16:70760849..70763441-chr16:70769230..70771713,2	MCF-7	breast:
10	chr16:70767547..70769820-chr16:70770075..70772238,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132613	Chromatin interaction
ENSG00000103043	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7190561	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517391	chr16:70666410-70840490	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv457517	chr16:70666722-70840490	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv572945	chr16:70666722-70840490	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv906878	chr16:70677785-70782922	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv906879	chr16:70677785-70790831	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS 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	19 gene(s)	inside rSNPs	diseases
6	nsv906880	chr16:70677785-70796515	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1059226	chr16:70708698-70779144	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv906889	chr16:70724001-70790831	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv906890	chr16:70740707-70790831	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1061191	chr16:70754975-71201367	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70727000-70770800	Weak transcription	GM12878-XiMat	blood
2	chr16:70750800-70771800	Weak transcription	A549	lung
3	chr16:70752600-70770800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr16:70754400-70776600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:70754400-70780000	Weak transcription	Hela-S3	cervix
6	chr16:70755200-70769600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:70755600-70774200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr16:70755800-70772000	Weak transcription	Small Intestine	intestine
9	chr16:70759800-70769600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:70759800-70770400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:70760000-70784200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:70760600-70771000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:70760800-70769400	Weak transcription	Fetal Kidney	kidney
14	chr16:70761000-70769400	Weak transcription	Stomach Mucosa	stomach
15	chr16:70761200-70777600	Weak transcription	K562	blood
16	chr16:70762200-70769400	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr16:70762200-70778200	Weak transcription	Ovary	ovary
18	chr16:70762400-70779600	Weak transcription	Aorta	Aorta
19	chr16:70762600-70770400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr16:70762600-70774600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr16:70762800-70769400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr16:70763200-70771000	Weak transcription	Gastric	stomach
23	chr16:70763400-70773000	Weak transcription	Fetal Brain Female	brain
24	chr16:70764400-70771000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:70765000-70771000	Weak transcription	Pancreas	Pancrea
26	chr16:70765200-70771000	Weak transcription	Brain Angular Gyrus	brain
27	chr16:70765400-70769400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr16:70765400-70769400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr16:70765400-70769400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr16:70765400-70769600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr16:70765400-70769600	Weak transcription	HepG2	liver
32	chr16:70765400-70769800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr16:70765400-70769800	Weak transcription	Right Atrium	heart
34	chr16:70765400-70771000	Weak transcription	Liver	Liver
35	chr16:70765400-70771000	Weak transcription	Brain Germinal Matrix	brain
36	chr16:70765400-70771000	Weak transcription	Esophagus	oesophagus
37	chr16:70765400-70771200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:70765400-70771600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr16:70765400-70773200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr16:70765600-70769400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:70765600-70769400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:70765600-70769800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:70765600-70770400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr16:70765600-70770400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:70765600-70770600	Weak transcription	Brain Hippocampus Middle	brain
46	chr16:70765600-70771000	Weak transcription	Brain Substantia Nigra	brain
47	chr16:70765600-70771000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr16:70765600-70771800	Weak transcription	Dnd41	blood
49	chr16:70765600-70772200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr16:70765800-70771200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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