Variant report

Variant	rs11646834
Chromosome Location	chr16:70718976-70718977
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70716977..70719990-chr16:70779925..70783515,4	K562	blood:
2	chr16:70709373..70712593-chr16:70717107..70721470,4	MCF-7	breast:
3	chr16:70704267..70706050-chr16:70717985..70719949,2	MCF-7	breast:
4	chr16:70414936..70416804-chr16:70716789..70719608,2	MCF-7	breast:
5	chr16:70716857..70722605-chr16:70776377..70783146,15	MCF-7	breast:
6	chr16:70717368..70719959-chr16:70834400..70837024,2	MCF-7	breast:
7	chr16:70555634..70562342-chr16:70718026..70723686,6	MCF-7	breast:
8	chr16:70718434..70719938-chr16:70760026..70761921,2	K562	blood:
9	chr16:70717596..70719954-chr16:70769240..70771432,3	K562	blood:
10	chr1:28974074..28976735-chr16:70718527..70720954,2	K562	blood:
11	chr16:70715424..70721545-chr16:70778213..70783786,16	MCF-7	breast:
12	chr16:70716977..70720923-chr16:70779925..70783515,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132613	Chromatin interaction
ENSG00000262890	Chromatin interaction
ENSG00000260156	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000103043	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11075777	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11075778	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11075779	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11075780	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11640399	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11643085	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11647479	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12597717	0.90[EUR][1000 genomes]
rs12599324	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12920683	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12921898	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2864755	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35874206	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3826272	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985416	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985557	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4985560	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56264804	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6499333	0.83[EUR][1000 genomes]
rs7195572	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv906874	chr16:70677785-70740707	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv906875	chr16:70677785-70742536	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv906876	chr16:70677785-70757555	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv906877	chr16:70677785-70766378	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	nsv906882	chr16:70690989-70725815	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv572946	chr16:70694000-70740707	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
13	nsv471094	chr16:70694000-70749970	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv906884	chr16:70696009-70725815	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv906885	chr16:70696367-70742536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
16	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
17	nsv906886	chr16:70712549-70727324	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
18	nsv906887	chr16:70714434-70727324	Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
19	nsv572947	chr16:70714434-70731870	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
20	nsv906888	chr16:70716742-70742536	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
21	esv3400505	chr16:70718476-70721024	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	esv3372973	chr16:70718876-70721424	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70694600-70720200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:70711800-70719000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:70714200-70719200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:70714800-70719000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr16:70717000-70720400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr16:70717200-70720400	Active TSS	HSMMtube	muscle
7	chr16:70717600-70719000	Flanking Active TSS	HMEC	breast
8	chr16:70717600-70719000	Flanking Active TSS	Osteobl	bone
9	chr16:70717600-70720200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr16:70717800-70719000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr16:70717800-70719000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:70717800-70719000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
13	chr16:70717800-70719000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr16:70717800-70720600	Active TSS	Aorta	Aorta
15	chr16:70718000-70719000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr16:70718000-70719000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:70718000-70719000	Flanking Active TSS	Ovary	ovary
18	chr16:70718000-70719000	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr16:70718000-70719200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr16:70718000-70720200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:70718000-70720200	Active TSS	NHLF	lung
22	chr16:70718000-70720400	Active TSS	Brain Anterior Caudate	brain
23	chr16:70718200-70719000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr16:70718200-70719000	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr16:70718200-70719000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr16:70718200-70719000	Flanking Active TSS	Fetal Brain Female	brain
27	chr16:70718200-70719000	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr16:70718200-70719000	Flanking Active TSS	Lung	lung
29	chr16:70718200-70719000	Flanking Active TSS	A549	lung
30	chr16:70718200-70719400	Flanking Active TSS	Fetal Thymus	thymus
31	chr16:70718200-70720200	Active TSS	Brain Substantia Nigra	brain
32	chr16:70718200-70720400	Active TSS	Rectal Smooth Muscle	rectum
33	chr16:70718200-70720400	Active TSS	HSMM	muscle
34	chr16:70718200-70720400	Active TSS	NHDF-Ad	bronchial
35	chr16:70718400-70719000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:70718400-70719000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:70718400-70719000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr16:70718400-70719000	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr16:70718400-70719000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr16:70718400-70719000	Flanking Active TSS	Colonic Mucosa	Colon
41	chr16:70718400-70719000	Flanking Active TSS	Fetal Heart	heart
42	chr16:70718400-70719000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
43	chr16:70718400-70719000	Flanking Active TSS	Left Ventricle	heart
44	chr16:70718400-70719000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr16:70718400-70719000	Flanking Active TSS	Hela-S3	cervix
46	chr16:70718400-70719000	Flanking Active TSS	NH-A	brain
47	chr16:70718400-70719000	Flanking Active TSS	NHEK	skin
48	chr16:70718400-70719200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:70718400-70719200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
50	chr16:70718400-70719400	Flanking Active TSS	Adipose Nuclei	Adipose

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