Variant report

Variant	rs7280197
Chromosome Location	chr21:16415732-16415733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16413029..16416695-chr21:16417733..16422719,4	MCF-7	breast:
2	chr21:16413139..16415983-chr21:16435318..16439452,4	MCF-7	breast:
3	chr21:16415623..16417157-chr21:16436047..16437880,2	MCF-7	breast:
4	chr21:16409943..16411760-chr21:16414362..16416923,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180530	Chromatin interaction
ENSG00000236471	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2223041	1.00[CEU][hapmap];0.93[GIH][hapmap];0.84[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9636612	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][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	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16364800-16423000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:16374800-16423200	Weak transcription	Colonic Mucosa	Colon
3	chr21:16400000-16423200	Weak transcription	Fetal Stomach	stomach
4	chr21:16400200-16423200	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:16400800-16423000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr21:16401400-16423000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:16401600-16423000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:16401600-16426400	Weak transcription	HUVEC	blood vessel
9	chr21:16402400-16416200	Weak transcription	Right Ventricle	heart
10	chr21:16402400-16420600	Weak transcription	Brain Angular Gyrus	brain
11	chr21:16403600-16423200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:16406800-16421000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr21:16407000-16420600	Weak transcription	Thymus	Thymus
14	chr21:16407000-16422000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr21:16407000-16423400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr21:16407400-16420600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr21:16407400-16421800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr21:16407400-16422000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr21:16407400-16422600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr21:16407400-16422600	Weak transcription	Brain Anterior Caudate	brain
21	chr21:16407400-16425600	Weak transcription	NHDF-Ad	bronchial
22	chr21:16407400-16431200	Weak transcription	NHEK	skin
23	chr21:16408600-16425800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr21:16408800-16423800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr21:16409400-16415800	Strong transcription	HSMM	muscle
26	chr21:16409800-16420200	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr21:16410000-16415800	Strong transcription	A549	lung
28	chr21:16410000-16422000	Weak transcription	Colon Smooth Muscle	Colon
29	chr21:16410200-16418000	Weak transcription	Small Intestine	intestine
30	chr21:16410400-16426400	Weak transcription	HMEC	breast
31	chr21:16410600-16420000	Weak transcription	Stomach Mucosa	stomach
32	chr21:16410600-16423400	Weak transcription	Fetal Brain Male	brain
33	chr21:16411800-16420200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr21:16412800-16415800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:16413400-16416000	Strong transcription	K562	blood
36	chr21:16413600-16421800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr21:16413600-16423000	Weak transcription	Brain Germinal Matrix	brain
38	chr21:16414200-16416000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr21:16414200-16416600	Weak transcription	Fetal Heart	heart
40	chr21:16414400-16416000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:16414400-16427200	Weak transcription	Aorta	Aorta
42	chr21:16414600-16416000	ZNF genes & repeats	Primary B cells from cord blood	blood
43	chr21:16414600-16416400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr21:16414600-16421000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:16415000-16415800	Strong transcription	HepG2	liver
46	chr21:16415000-16421600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr21:16415200-16422600	Weak transcription	Fetal Kidney	kidney
48	chr21:16415200-16423000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr21:16415200-16423200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr21:16415200-16424000	Weak transcription	HSMMtube	muscle

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