Variant report

Variant	rs5994629
Chromosome Location	chr22:21948389-21948390
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21947958..21948761-chr22:21996942..21997594,2	MCF-7	breast:
2	chr22:21948091..21948761-chr22:21983923..21984849,2	K562	blood:
3	chr22:21947515..21948867-chr22:21995546..21996912,6	K562	blood:
4	chr22:21948005..21948703-chr22:22000818..22001692,2	MCF-7	breast:
5	chr22:21921342..21923336-chr22:21946861..21949397,4	MCF-7	breast:
6	chr22:21946844..21949571-chr22:21995777..21997956,4	MCF-7	breast:
7	chr22:21947623..21948560-chr22:21995300..21996217,4	MCF-7	breast:
8	chr22:21947838..21949188-chr22:21997035..21997915,5	K562	blood:
9	chr22:21947939..21949915-chr22:21955240..21958057,2	MCF-7	breast:
10	chr22:21946601..21948527-chr22:21954030..21955581,2	MCF-7	breast:
11	chr22:21947814..21948799-chr22:22000735..22001627,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161179	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000185651	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12160982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984988	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2194827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28436610	1.00[EUR][1000 genomes]
rs55771333	1.00[EUR][1000 genomes]
rs58384889	1.00[EUR][1000 genomes]
rs5994603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998662	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998733	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61757961	1.00[EUR][1000 genomes]
rs61763394	1.00[EUR][1000 genomes]
rs7289600	1.00[EUR][1000 genomes]
rs73384145	1.00[EUR][1000 genomes]
rs8139523	1.00[EUR][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	nsv1065490	chr22:21567219-21949226	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1056096	chr22:21567219-21951562	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv1797475	chr22:21683210-21950089	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv1816994	chr22:21683210-21950089	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv1824349	chr22:21683210-21950089	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
6	esv1826188	chr22:21683210-21950089	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers 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	34 gene(s)	inside rSNPs	diseases
7	esv1851345	chr22:21683210-21950089	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv428386	chr22:21683210-21950089	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
10	nsv834145	chr22:21775069-21950089	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
12	nsv1064360	chr22:21809185-21951562	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
14	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
15	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
16	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
17	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh 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	477 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21936000-21948400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr22:21937800-21965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:21939000-21954000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:21939600-21983200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:21942600-21960800	Weak transcription	Small Intestine	intestine
6	chr22:21943400-21963600	Strong transcription	Fetal Intestine Small	intestine
7	chr22:21943800-21948800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
8	chr22:21943800-21952000	Strong transcription	HepG2	liver
9	chr22:21943800-21954200	Strong transcription	Dnd41	blood
10	chr22:21944000-21951200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr22:21944200-21948600	Weak transcription	Hela-S3	cervix
12	chr22:21945000-21952000	Strong transcription	Fetal Thymus	thymus
13	chr22:21945000-21955200	Strong transcription	Fetal Stomach	stomach
14	chr22:21945200-21951400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:21945200-21951800	Strong transcription	Fetal Intestine Large	intestine
16	chr22:21945200-21952000	Strong transcription	A549	lung
17	chr22:21945400-21951200	Strong transcription	NHLF	lung
18	chr22:21945400-21951400	Strong transcription	Primary T cells from cord blood	blood
19	chr22:21945600-21951200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:21945600-21952600	Strong transcription	K562	blood
21	chr22:21945800-21950000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr22:21945800-21950600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr22:21945800-21950800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:21945800-21951800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr22:21945800-21954200	Strong transcription	GM12878-XiMat	blood
26	chr22:21946000-21951200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr22:21946000-21952000	Strong transcription	Thymus	Thymus
28	chr22:21946000-21954000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:21946200-21950000	Strong transcription	Primary B cells from cord blood	blood
30	chr22:21946200-21951400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr22:21946200-21951400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:21946200-21951600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr22:21946200-21953200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr22:21946200-21954000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr22:21946200-21954600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:21946400-21948400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:21946400-21950200	Strong transcription	NHEK	skin
38	chr22:21946400-21950600	Strong transcription	Spleen	Spleen
39	chr22:21946400-21960200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:21946400-21980200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr22:21946600-21950800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:21946600-21951200	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr22:21946600-21951600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:21946600-21953800	Strong transcription	HSMM	muscle
45	chr22:21946800-21948400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:21946800-21949800	Strong transcription	Colonic Mucosa	Colon
47	chr22:21946800-21949800	Strong transcription	Stomach Mucosa	stomach
48	chr22:21946800-21950200	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr22:21946800-21950800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr22:21946800-21951000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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