Variant report

Variant	rs10262194
Chromosome Location	chr7:6274585-6274586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6267386..6270173-chr7:6273656..6275237,2	MCF-7	breast:
2	chr7:6273886..6277696-chr7:6281292..6283185,5	K562	blood:
3	chr7:6272230..6274862-chr7:6275358..6276996,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs17136085	0.81[CHB][hapmap]
rs6946205	0.94[ASW][hapmap];0.89[LWK][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs6969814	0.92[YRI][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10262194	PSCD3	Cis_1M	lymphoblastoid	RTeQTL
rs10262194	EIF2AK1	cis	parietal	SCAN
rs10262194	AMZ1	cis	parietal	SCAN
rs10262194	PMS2	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6259400-6276800	Weak transcription	Aorta	Aorta
2	chr7:6268800-6282400	Weak transcription	HMEC	breast
3	chr7:6268800-6285000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:6269200-6275000	Weak transcription	Fetal Lung	lung
5	chr7:6269200-6275400	Weak transcription	Fetal Heart	heart
6	chr7:6269200-6288000	Weak transcription	NHEK	skin
7	chr7:6269600-6275400	Weak transcription	Fetal Kidney	kidney
8	chr7:6269600-6276600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:6270400-6275000	Enhancers	Left Ventricle	heart
10	chr7:6270600-6275000	Enhancers	Lung	lung
11	chr7:6270600-6275000	Enhancers	Psoas Muscle	Psoas
12	chr7:6270600-6275000	Enhancers	Right Ventricle	heart
13	chr7:6271200-6274600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:6271200-6274600	Weak transcription	NHLF	lung
15	chr7:6271200-6277600	Weak transcription	A549	lung
16	chr7:6271200-6282800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:6272000-6274800	Enhancers	GM12878-XiMat	blood
18	chr7:6272400-6274800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:6272400-6275200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:6272400-6280800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:6272600-6274600	Weak transcription	Esophagus	oesophagus
22	chr7:6272600-6276600	Weak transcription	Placenta	Placenta
23	chr7:6272600-6277400	Weak transcription	Gastric	stomach
24	chr7:6272600-6285800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:6272800-6274600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:6272800-6274800	Weak transcription	Fetal Stomach	stomach
27	chr7:6272800-6274800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:6272800-6282200	Weak transcription	Osteobl	bone
29	chr7:6273000-6274600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:6273000-6274600	Weak transcription	Spleen	Spleen
31	chr7:6273000-6275400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:6273000-6276600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:6273000-6277400	Weak transcription	Stomach Mucosa	stomach
34	chr7:6273000-6285000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:6273000-6286600	Weak transcription	HSMMtube	muscle
36	chr7:6273400-6275000	Enhancers	Fetal Muscle Trunk	muscle
37	chr7:6273400-6275000	Enhancers	Right Atrium	heart
38	chr7:6273600-6282400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:6273600-6282400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:6273800-6274600	Enhancers	Fetal Thymus	thymus
41	chr7:6273800-6274800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:6273800-6274800	Enhancers	Dnd41	blood
43	chr7:6273800-6275400	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:6273800-6279600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:6274000-6275400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:6274000-6280800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:6274200-6274600	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:6274200-6275000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:6274200-6275000	Strong transcription	Fetal Intestine Small	intestine
50	chr7:6274200-6275200	Enhancers	Ovary	ovary

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