Variant report

Variant	rs8127517
Chromosome Location	chr21:46372555-46372556
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: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	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
2	chr21:46370739..46373198-chr21:46433814..46437051,3	K562	blood:
3	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
4	chr21:46372382..46374637-chr21:46555803..46558629,2	K562	blood:
5	chr21:46371607..46373687-chr21:46493241..46495203,2	MCF-7	breast:
6	chr21:46368229..46374115-chr21:46374495..46378460,7	MCF-7	breast:
7	chr21:46372175..46374627-chr21:46492552..46495748,3	MCF-7	breast:
8	chr21:46369744..46371483-chr21:46372356..46374168,2	MCF-7	breast:
9	chr21:46372367..46372964-chr21:46556977..46557491,2	MCF-7	breast:
10	chr21:46366778..46369466-chr21:46371570..46373998,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000160256	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs2838748	1.00[EUR][1000 genomes]
rs55633511	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55705724	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55775492	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55989453	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56037799	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs56283815	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56297608	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57677709	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58184639	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58929845	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58951027	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58977945	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59163354	1.00[EUR][1000 genomes]
rs59226008	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59267673	1.00[EUR][1000 genomes]
rs59281465	1.00[EUR][1000 genomes]
rs59318141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59444929	1.00[EUR][1000 genomes]
rs59573927	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59730475	1.00[EUR][1000 genomes]
rs60088468	1.00[EUR][1000 genomes]
rs60725487	1.00[EUR][1000 genomes]
rs61674083	0.82[AFR][1000 genomes]
rs7276874	0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7277529	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7278296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7278617	0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7279913	0.93[AMR][1000 genomes]
rs7283338	1.00[EUR][1000 genomes]
rs7283630	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73376557	1.00[EUR][1000 genomes]
rs73906965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906966	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906968	1.00[EUR][1000 genomes]
rs73906970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906971	1.00[EUR][1000 genomes]
rs73906974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73906981	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73906983	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73906984	1.00[EUR][1000 genomes]
rs73906985	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73907002	1.00[EUR][1000 genomes]
rs73907203	0.93[AMR][1000 genomes]
rs73909903	1.00[EUR][1000 genomes]
rs73909905	1.00[EUR][1000 genomes]
rs73909906	1.00[EUR][1000 genomes]
rs73909911	1.00[EUR][1000 genomes]
rs8129398	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8130143	0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8130435	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8133480	0.93[AMR][1000 genomes]
rs8134047	1.00[EUR][1000 genomes]
rs8134093	0.93[AMR][1000 genomes]
rs8134646	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
9	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913981	chr21:46344426-46408790	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv913982	chr21:46344426-46430792	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
16	nsv913984	chr21:46344426-46435610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv913983	chr21:46344426-46440385	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv913985	chr21:46344426-46448142	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
19	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
20	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
21	nsv913988	chr21:46356816-46408790	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer 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	16 gene(s)	inside rSNPs	diseases
22	nsv913989	chr21:46356816-46430792	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
23	nsv913990	chr21:46356816-46448142	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
25	nsv544480	chr21:46364856-46413159	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases
26	nsv913992	chr21:46366547-46408790	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46361000-46384200	Weak transcription	Fetal Kidney	kidney
2	chr21:46361400-46384600	Weak transcription	Small Intestine	intestine
3	chr21:46361600-46375600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:46361600-46378000	Weak transcription	Stomach Mucosa	stomach
5	chr21:46361600-46378200	Weak transcription	NHDF-Ad	bronchial
6	chr21:46361600-46389200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr21:46362000-46382800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:46362400-46383200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr21:46363000-46382400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr21:46363200-46373800	Strong transcription	Brain Germinal Matrix	brain
11	chr21:46363400-46373000	Strong transcription	Esophagus	oesophagus
12	chr21:46363400-46377400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:46363600-46378000	Strong transcription	Fetal Intestine Large	intestine
14	chr21:46363600-46378000	Strong transcription	NHLF	lung
15	chr21:46363600-46378600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:46364200-46391400	Strong transcription	Dnd41	blood
17	chr21:46364400-46377200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:46364800-46380400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr21:46365400-46375200	Weak transcription	Fetal Lung	lung
20	chr21:46365600-46372600	Weak transcription	Brain Anterior Caudate	brain
21	chr21:46365600-46378200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:46365800-46373600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:46366200-46374600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:46366200-46375800	Enhancers	Left Ventricle	heart
25	chr21:46366600-46376600	Weak transcription	Osteobl	bone
26	chr21:46367600-46376400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr21:46367600-46382200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:46367800-46375200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr21:46367800-46377600	Weak transcription	Ovary	ovary
30	chr21:46367800-46378000	Weak transcription	HUVEC	blood vessel
31	chr21:46368000-46373800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr21:46368200-46376200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr21:46368800-46380600	Enhancers	Fetal Heart	heart
34	chr21:46368800-46382600	Genic enhancers	Fetal Muscle Leg	muscle
35	chr21:46369000-46383000	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr21:46369600-46374200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:46369800-46377800	Strong transcription	Gastric	stomach
38	chr21:46370000-46376600	Weak transcription	Brain Hippocampus Middle	brain
39	chr21:46370000-46378400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:46370000-46378400	Weak transcription	Brain Substantia Nigra	brain
41	chr21:46370000-46380200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr21:46370000-46384200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr21:46370000-46385000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:46370200-46372600	Strong transcription	K562	blood
45	chr21:46370200-46372800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr21:46370200-46373600	Weak transcription	Placenta	Placenta
47	chr21:46370200-46373800	Weak transcription	HepG2	liver
48	chr21:46370200-46374400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:46370200-46374400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr21:46370200-46375200	Weak transcription	NH-A	brain

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