Variant report

Variant	rs28608158
Chromosome Location	chr7:100951712-100951713
allele	A/C
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:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100951106..100952099-chr8:37552941..37553786,2	HCT-116	colon:
2	chr7:100859934..100861544-chr7:100949902..100952091,2	K562	blood:
3	chr7:100950840..100954191-chr7:100963498..100966604,5	MCF-7	breast:
4	chr7:100941733..100944347-chr7:100950677..100953123,2	MCF-7	breast:
5	chr7:100951652..100953398-chr7:100953486..100955854,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNHIT1-2	chr7:100951627-100951829	ENSG00000232445.1
2	lnc-ZNHIT1-1	chr7:100951621-100951829	NR_110115
3	lnc-ZNHIT1-1	chr7:100951580-100951829	NONHSAT122462

No data

Variant related genes	Relation type
ENSG00000232301	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000106397	Chromatin interaction
ENSG00000128581	Chromatin interaction
ENSG00000183779	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2012424	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410820	0.87[ASN][1000 genomes]
rs3757464	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729686	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56146311	0.82[ASN][1000 genomes]
rs57739182	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58804804	0.87[ASN][1000 genomes]
rs59837657	0.87[ASN][1000 genomes]
rs73173723	0.87[ASN][1000 genomes]
rs73173734	0.87[AFR][1000 genomes]
rs73173752	0.87[AFR][1000 genomes]
rs73180992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180994	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180998	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181001	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv1023393	chr7:100904333-101102046	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv2752135	chr7:100932330-101135565	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2752136	chr7:100932330-101143259	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription 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	15 gene(s)	inside rSNPs	diseases
15	nsv1017098	chr7:100935631-101117541	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv539042	chr7:100935631-101117541	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv2752137	chr7:100938008-101135398	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr7:100950600-100953000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:100950800-100952800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:100950800-100952800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:100950800-100953200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:100951000-100951800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr7:100951000-100951800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:100951000-100952000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:100951000-100952000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr7:100951000-100952200	Active TSS	HMEC	breast
10	chr7:100951000-100952200	Active TSS	NHEK	skin
11	chr7:100951000-100952800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:100951000-100952800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:100951000-100952800	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr7:100951000-100952800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:100951000-100952800	Active TSS	Hela-S3	cervix
16	chr7:100951000-100953000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr7:100951000-100953200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr7:100951200-100951800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:100951200-100951800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
20	chr7:100951200-100951800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
21	chr7:100951200-100951800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:100951200-100951800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:100951200-100951800	Active TSS	Brain Anterior Caudate	brain
24	chr7:100951200-100951800	Bivalent/Poised TSS	Colonic Mucosa	Colon
25	chr7:100951200-100951800	Bivalent/Poised TSS	Fetal Brain Female	brain
26	chr7:100951200-100951800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr7:100951200-100951800	Active TSS	Fetal Kidney	kidney
28	chr7:100951200-100952000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:100951200-100952000	Active TSS	Pancreas	Pancrea
30	chr7:100951200-100952200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:100951200-100952200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:100951200-100952200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:100951200-100952200	Active TSS	Muscle Satellite Cultured Cells	--
34	chr7:100951200-100952200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
35	chr7:100951200-100952200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
36	chr7:100951200-100952200	Active TSS	Gastric	stomach
37	chr7:100951200-100952200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr7:100951200-100952200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr7:100951200-100952400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr7:100951200-100952400	Active TSS	A549	lung
41	chr7:100951200-100952600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr7:100951200-100952600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:100951200-100952600	Active TSS	Duodenum Mucosa	Duodenum
44	chr7:100951200-100952600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
45	chr7:100951200-100952600	Active TSS	K562	blood
46	chr7:100951200-100952800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:100951200-100953000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:100951200-100953200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:100951400-100951800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr7:100951400-100951800	Flanking Active TSS	Primary B cells from cord blood	blood

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