Variant report

Variant	rs7806404
Chromosome Location	chr7:6296402-6296403
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6280841..6283704-chr7:6294906..6297324,2	K562	blood:
2	chr7:6290547..6293891-chr7:6295729..6298569,3	MCF-7	breast:
3	chr7:6295108..6297565-chr7:6362435..6365344,2	MCF-7	breast:
4	chr7:6295150..6302020-chr7:6308719..6313384,10	MCF-7	breast:
5	chr7:6294368..6296764-chr7:6296923..6299779,2	K562	blood:
6	chr7:6280841..6283108-chr7:6294501..6296406,2	K562	blood:
7	chr7:6295146..6297854-chr7:6301609..6304566,2	MCF-7	breast:
8	chr7:6295902..6297689-chr7:6310840..6312343,2	MCF-7	breast:
9	chr7:6289334..6292556-chr7:6296327..6298930,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000008256	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11973228	0.81[EUR][1000 genomes]
rs11973659	0.81[EUR][1000 genomes]
rs11974681	0.81[EUR][1000 genomes]
rs41282682	0.81[EUR][1000 genomes]
rs55681139	0.81[EUR][1000 genomes]
rs56295477	0.81[EUR][1000 genomes]
rs6946205	0.81[EUR][1000 genomes]
rs6953328	0.81[EUR][1000 genomes]
rs6957628	0.81[EUR][1000 genomes]
rs6974814	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs73675887	0.81[EUR][1000 genomes]
rs7786473	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7791072	0.81[AFR][1000 genomes]
rs7807841	1.00[CEU][hapmap]
rs7811590	0.81[EUR][1000 genomes]
rs7811721	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers 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	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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 target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7806404	PSCD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6287000-6297400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr7:6288200-6310400	Weak transcription	Brain Angular Gyrus	brain
3	chr7:6288400-6297400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:6288400-6297400	Weak transcription	Ovary	ovary
5	chr7:6288400-6298400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:6288400-6300000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:6288400-6306600	Weak transcription	Esophagus	oesophagus
8	chr7:6289200-6297400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:6289200-6300000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:6289400-6297200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:6291600-6297400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:6292400-6300000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:6292800-6296600	Enhancers	Left Ventricle	heart
14	chr7:6292800-6296800	Enhancers	Fetal Muscle Trunk	muscle
15	chr7:6293000-6306400	Weak transcription	NHEK	skin
16	chr7:6293400-6306600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:6293600-6296600	Enhancers	Placenta	Placenta
18	chr7:6293600-6298200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr7:6293600-6299000	Enhancers	HSMMtube	muscle
20	chr7:6293800-6299000	Enhancers	HSMM	muscle
21	chr7:6293800-6299200	Enhancers	Stomach Mucosa	stomach
22	chr7:6294000-6296800	Enhancers	Fetal Muscle Leg	muscle
23	chr7:6294200-6296800	Enhancers	Gastric	stomach
24	chr7:6294200-6297600	Enhancers	HepG2	liver
25	chr7:6294200-6303200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:6294400-6300600	Enhancers	A549	lung
27	chr7:6294400-6301200	Enhancers	Adipose Nuclei	Adipose
28	chr7:6294800-6296600	Enhancers	K562	blood
29	chr7:6294800-6298600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:6295000-6296800	Enhancers	Psoas Muscle	Psoas
31	chr7:6295000-6298400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr7:6295200-6296800	Enhancers	Small Intestine	intestine
33	chr7:6295200-6298200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:6295200-6299200	Enhancers	Primary hematopoietic stem cells	blood
35	chr7:6295200-6300200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:6295400-6296800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:6295600-6296800	Enhancers	Fetal Stomach	stomach
38	chr7:6295600-6298200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:6295600-6298800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr7:6295600-6299000	Flanking Active TSS	GM12878-XiMat	blood
41	chr7:6295800-6296600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:6295800-6296600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr7:6295800-6296600	Enhancers	Colon Smooth Muscle	Colon
44	chr7:6295800-6296600	Enhancers	Fetal Thymus	thymus
45	chr7:6295800-6296600	Enhancers	Lung	lung
46	chr7:6295800-6296600	Enhancers	Pancreas	Pancrea
47	chr7:6295800-6296800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:6295800-6296800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:6295800-6296800	Enhancers	Right Ventricle	heart
50	chr7:6295800-6297600	Enhancers	Primary monocytes fromperipheralblood	blood

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