Variant report

Variant	rs8127763
Chromosome Location	chr21:16402431-16402432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16401518..16403961-chr21:16435811..16437558,2	MCF-7	breast:
2	chr21:16401281..16403693-chr21:16405918..16408150,2	MCF-7	breast:
3	chr21:16402301..16404920-chr21:16410116..16411661,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2823014	0.85[YRI][hapmap]
rs2823015	0.91[ASW][hapmap];1.00[CEU][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs2823016	0.91[ASW][hapmap];1.00[CEU][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs28583059	0.97[EUR][1000 genomes]
rs28615289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060151	chr21:16295713-16435497	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv544378	chr21:16295713-16435497	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription 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 target site	5 gene(s)	inside rSNPs	diseases
3	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv913411	chr21:16380025-16424421	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv913412	chr21:16382148-16416811	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3424748	chr21:16402081-16405279	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16360400-16402600	Weak transcription	Placenta	Placenta
2	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:16368600-16414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
5	chr21:16378800-16406000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr21:16379600-16403000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:16379600-16414800	Weak transcription	Left Ventricle	heart
8	chr21:16379600-16414800	Weak transcription	Ovary	ovary
9	chr21:16379800-16406400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr21:16380600-16414600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr21:16381000-16403200	Weak transcription	Fetal Thymus	thymus
12	chr21:16381200-16404200	Weak transcription	Fetal Intestine Large	intestine
13	chr21:16381800-16403200	Weak transcription	Adipose Nuclei	Adipose
14	chr21:16382000-16414600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:16383400-16414600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr21:16386000-16413200	Weak transcription	K562	blood
17	chr21:16388800-16402800	Weak transcription	Osteobl	bone
18	chr21:16388800-16407000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:16389000-16405800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:16391200-16404200	Weak transcription	NH-A	brain
21	chr21:16391200-16406800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr21:16393800-16404800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr21:16393800-16406600	Weak transcription	Primary T cells from cord blood	blood
24	chr21:16393800-16406800	Weak transcription	Dnd41	blood
25	chr21:16394000-16404400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr21:16394400-16406200	Weak transcription	HMEC	breast
27	chr21:16395600-16406800	Weak transcription	NHEK	skin
28	chr21:16396200-16403200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:16396400-16406000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr21:16396400-16406600	Weak transcription	HSMMtube	muscle
31	chr21:16396600-16406200	Weak transcription	NHLF	lung
32	chr21:16397200-16413200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:16397600-16404000	Weak transcription	GM12878-XiMat	blood
34	chr21:16397600-16406200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr21:16399000-16402800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr21:16399400-16403400	Genic enhancers	Primary hematopoietic stem cells	blood
37	chr21:16400000-16423200	Weak transcription	Fetal Stomach	stomach
38	chr21:16400200-16423200	Weak transcription	Brain Hippocampus Middle	brain
39	chr21:16400400-16403400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr21:16400600-16403200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr21:16400600-16406200	Weak transcription	Colon Smooth Muscle	Colon
42	chr21:16400600-16409800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr21:16400800-16402800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr21:16400800-16405800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr21:16400800-16406000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr21:16400800-16406200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr21:16400800-16406400	Weak transcription	Fetal Lung	lung
48	chr21:16400800-16423000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr21:16401000-16403000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr21:16401200-16411400	Weak transcription	Fetal Kidney	kidney

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