Variant report

Variant	rs391815
Chromosome Location	chr21:46548611-46548612
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46493052..46496413-chr21:46547928..46550318,5	MCF-7	breast:
2	chr21:46358799..46362946-chr21:46546409..46551680,5	K562	blood:
3	chr21:46415784..46416574-chr21:46548514..46549216,2	MCF-7	breast:
4	chr21:46515041..46517271-chr21:46546796..46549469,2	K562	blood:
5	chr21:46492924..46497122-chr21:46547379..46551295,4	MCF-7	breast:
6	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
7	chr21:46347046..46349243-chr21:46545883..46548801,2	MCF-7	breast:
8	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268856	Chromatin interaction
ENSG00000268805	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs381390	0.93[ASN][1000 genomes]
rs385674	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs870144	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv522002	chr21:46542670-46551702	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs391815	KRTAP10-7	cis	cerebellum	SCAN
rs391815	HSF2BP	cis	parietal	SCAN
rs391815	SLC19A1	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46526400-46549400	Weak transcription	Brain Substantia Nigra	brain
3	chr21:46529400-46549400	Weak transcription	Esophagus	oesophagus
4	chr21:46529800-46554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr21:46530400-46554600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr21:46530800-46554600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr21:46531400-46549600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr21:46532600-46552400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr21:46532600-46570600	Weak transcription	Dnd41	blood
10	chr21:46534800-46549600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr21:46536000-46549000	Weak transcription	HMEC	breast
12	chr21:46538800-46552200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:46540600-46549400	Weak transcription	Gastric	stomach
14	chr21:46541600-46549000	Enhancers	Primary B cells from peripheral blood	blood
15	chr21:46541800-46552400	Weak transcription	Fetal Brain Male	brain
16	chr21:46542200-46549400	Weak transcription	Fetal Lung	lung
17	chr21:46542800-46551400	Weak transcription	Lung	lung
18	chr21:46543000-46549400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr21:46543800-46549600	Weak transcription	Pancreas	Pancrea
20	chr21:46544200-46558200	Weak transcription	HepG2	liver
21	chr21:46544200-46560400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr21:46544400-46552400	Weak transcription	Thymus	Thymus
23	chr21:46545000-46554800	Enhancers	Fetal Muscle Leg	muscle
24	chr21:46545200-46549200	Genic enhancers	HSMM	muscle
25	chr21:46545200-46550400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr21:46545600-46553200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr21:46546400-46551400	Enhancers	Fetal Heart	heart
28	chr21:46546600-46549800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:46546600-46554600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:46546800-46549400	Weak transcription	Psoas Muscle	Psoas
31	chr21:46546800-46552800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr21:46546800-46555200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr21:46547000-46550000	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr21:46547200-46549400	Weak transcription	Fetal Intestine Small	intestine
35	chr21:46547200-46552400	Weak transcription	Primary T cells from cord blood	blood
36	chr21:46547400-46548800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:46547400-46548800	Enhancers	Right Ventricle	heart
38	chr21:46547600-46549200	Weak transcription	Right Atrium	heart
39	chr21:46547600-46549400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr21:46547600-46551200	Enhancers	Primary B cells from cord blood	blood
41	chr21:46547800-46549600	Enhancers	Stomach Smooth Muscle	stomach
42	chr21:46548000-46548800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr21:46548000-46549400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr21:46548000-46549400	Weak transcription	Fetal Stomach	stomach
45	chr21:46548000-46549400	Enhancers	NHDF-Ad	bronchial
46	chr21:46548200-46549400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr21:46548200-46549400	Enhancers	NHEK	skin
48	chr21:46548200-46550200	Enhancers	HUVEC	blood vessel
49	chr21:46548200-46550400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr21:46548200-46553400	Enhancers	Colon Smooth Muscle	Colon

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