Variant report

Variant	rs6957628
Chromosome Location	chr7:6237250-6237251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6236702..6238483-chr7:6243119..6244691,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11973228	1.00[EUR][1000 genomes]
rs11973659	1.00[EUR][1000 genomes]
rs11974681	1.00[EUR][1000 genomes]
rs41282682	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55681139	1.00[EUR][1000 genomes]
rs56295477	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6946205	0.86[EUR][1000 genomes]
rs6953328	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6974814	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73675887	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7806404	0.81[EUR][1000 genomes]
rs7807841	0.81[EUR][1000 genomes]
rs7811590	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7811721	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv5629	chr7:6217866-6263131	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6957628	PSCD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6202400-6238000	Weak transcription	Fetal Kidney	kidney
2	chr7:6211800-6237800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:6212200-6237800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:6212800-6238200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:6213200-6240600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:6216800-6237800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:6219600-6238000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:6219600-6241800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:6219600-6243000	Weak transcription	K562	blood
10	chr7:6219800-6241800	Weak transcription	Pancreas	Pancrea
11	chr7:6221400-6238400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:6226800-6238200	Weak transcription	Brain Angular Gyrus	brain
13	chr7:6227000-6238600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:6227200-6237600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:6227200-6238600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:6227200-6239000	Weak transcription	HMEC	breast
17	chr7:6227400-6237600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:6227400-6238000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:6227400-6242800	Weak transcription	A549	lung
20	chr7:6228200-6240800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:6228400-6238400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:6228600-6247800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:6228600-6257400	Weak transcription	Primary B cells from cord blood	blood
24	chr7:6228800-6237400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:6228800-6244200	Weak transcription	NHDF-Ad	bronchial
26	chr7:6229000-6259800	Weak transcription	NHEK	skin
27	chr7:6229200-6237800	Weak transcription	Aorta	Aorta
28	chr7:6229200-6238000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr7:6229200-6241800	Weak transcription	Esophagus	oesophagus
30	chr7:6229200-6244000	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:6229200-6244600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:6229200-6252200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:6229400-6237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:6229400-6238400	Weak transcription	Ovary	ovary
35	chr7:6229400-6240200	Weak transcription	HSMM	muscle
36	chr7:6229400-6240600	Weak transcription	Spleen	Spleen
37	chr7:6229400-6242200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr7:6229400-6270600	Weak transcription	Gastric	stomach
39	chr7:6229800-6237800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:6229800-6238000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:6229800-6238000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:6229800-6238400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:6229800-6238400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:6229800-6238400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:6229800-6239000	Weak transcription	Fetal Brain Female	brain
46	chr7:6229800-6240600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:6229800-6244200	Weak transcription	Lung	lung
48	chr7:6229800-6244600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr7:6229800-6248600	Weak transcription	Fetal Lung	lung
50	chr7:6229800-6257600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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