Variant report

Variant	rs10429247
Chromosome Location	chr7:104937699-104937700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104935027..104937759-chr7:104947845..104950749,2	K562	blood:
2	chr7:104937663..104939344-chr7:105026759..105029557,2	MCF-7	breast:
3	chr7:104935439..104938791-chr7:104944886..104947910,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10227783	1.00[EUR][1000 genomes]
rs10235921	1.00[EUR][1000 genomes]
rs1204079	1.00[EUR][1000 genomes]
rs1204081	1.00[EUR][1000 genomes]
rs1204082	1.00[EUR][1000 genomes]
rs12111884	1.00[EUR][1000 genomes]
rs12112114	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2299302	1.00[EUR][1000 genomes]
rs28832590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56063525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56296263	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56930622	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57280586	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58306520	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59691189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60188077	1.00[EUR][1000 genomes]
rs60294737	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73404021	1.00[EUR][1000 genomes]
rs73715438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73715439	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73715452	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73715545	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73716650	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73716654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73717957	1.00[EUR][1000 genomes]
rs73717959	1.00[EUR][1000 genomes]
rs73717961	1.00[EUR][1000 genomes]
rs73717963	1.00[EUR][1000 genomes]
rs757957	1.00[EUR][1000 genomes]
rs9969144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2758127	chr7:104766707-105110581	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer 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	39 gene(s)	inside rSNPs	diseases
8	nsv932138	chr7:104826194-105152816	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	38 gene(s)	inside rSNPs	diseases
10	nsv888928	chr7:104897964-104944847	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1029832	chr7:104905057-105112489	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv2753646	chr7:104905588-104972800	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	esv1803707	chr7:104928335-104948317	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
15	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10429247	TGFB1I1	trans	lymphoblastoid	seeQTL
rs10429247	SRPK2	cis	lymphoblastoid	seeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104910800-104946000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:104912200-104939200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:104917200-104944600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:104918200-104939000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:104919200-104939000	Weak transcription	Pancreas	Pancrea
6	chr7:104919800-104939000	Weak transcription	Thymus	Thymus
7	chr7:104919800-104939200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:104920400-104939200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:104920600-104959600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:104923200-104944200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:104924800-104939000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:104924800-104939200	Weak transcription	Left Ventricle	heart
13	chr7:104925000-104944200	Weak transcription	A549	lung
14	chr7:104926400-104944600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:104929000-104939200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:104929400-104944600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:104929600-104938800	Weak transcription	Fetal Thymus	thymus
18	chr7:104929800-104944000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:104934600-104939200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:104934600-104939200	Weak transcription	Brain Substantia Nigra	brain
21	chr7:104934800-104938800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:104934800-104939000	Weak transcription	Psoas Muscle	Psoas
23	chr7:104934800-104939200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:104934800-104939200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:104934800-104944200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:104935000-104939200	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:104935000-104939400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:104935000-104942200	Weak transcription	Brain Anterior Caudate	brain
29	chr7:104935000-104944200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr7:104935200-104938600	Weak transcription	Primary T cells from cord blood	blood
31	chr7:104935200-104942400	Weak transcription	Brain Angular Gyrus	brain
32	chr7:104935600-104938400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:104936000-104937800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:104936000-104938000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr7:104936000-104938600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr7:104936000-104942400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:104936200-104938000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr7:104936400-104938600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr7:104936600-104937800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:104936600-104938600	Enhancers	Dnd41	blood
41	chr7:104936600-104940400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:104936800-104937800	Enhancers	HepG2	liver
43	chr7:104936800-104939000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:104937200-104937800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:104937400-104938000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:104937400-104938600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:104937400-104939000	Weak transcription	Right Atrium	heart
48	chr7:104937400-104939200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:104937600-104938200	Enhancers	K562	blood
50	chr7:104937600-104938600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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