Variant report

Variant	rs73409858
Chromosome Location	chr7:104945997-104945998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104945324..104947368-chr7:104952699..104954590,2	K562	blood:
2	chr7:104940444..104942808-chr7:104944871..104946727,2	MCF-7	breast:
3	chr7:104945506..104947169-chr7:104948934..104951564,2	MCF-7	breast:
4	chr7:104935439..104938791-chr7:104944886..104947910,3	MCF-7	breast:
5	chr7:104944940..104946853-chr7:104951503..104953129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000244490	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs58180831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58959327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60717575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60968925	1.00[AMR][1000 genomes]
rs61334733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405817	1.00[AMR][1000 genomes]
rs73405824	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73405840	1.00[AMR][1000 genomes]
rs73405842	1.00[AMR][1000 genomes]
rs73405879	1.00[AMR][1000 genomes]
rs73407822	1.00[AMR][1000 genomes]
rs73407843	1.00[AMR][1000 genomes]
rs73407877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73407879	1.00[AMR][1000 genomes]
rs73409846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409856	1.00[AMR][1000 genomes]
rs73409861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409873	1.00[AFR][1000 genomes];1.00[AMR][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	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	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:78 , 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	chr7:104920600-104959600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:104939200-104954400	Weak transcription	Stomach Mucosa	stomach
4	chr7:104939400-104950200	Weak transcription	Psoas Muscle	Psoas
5	chr7:104939400-104950200	Weak transcription	Right Atrium	heart
6	chr7:104939600-104947400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:104939600-104950200	Weak transcription	Gastric	stomach
8	chr7:104939600-104950200	Weak transcription	Pancreas	Pancrea
9	chr7:104939600-104966200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:104939800-104946400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:104939800-104950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:104939800-104950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:104940800-104949200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:104941400-104946400	Weak transcription	Primary T cells from cord blood	blood
15	chr7:104942000-104950200	Weak transcription	Esophagus	oesophagus
16	chr7:104942000-104953200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:104944200-104946200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:104944400-104947400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr7:104944400-104950800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:104944600-104946200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:104944600-104950600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr7:104944800-104946000	Enhancers	Dnd41	blood
23	chr7:104944800-104946400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:104945000-104946200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr7:104945000-104948000	Enhancers	Fetal Thymus	thymus
26	chr7:104945000-104950200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:104945000-104950200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:104945000-104950400	Weak transcription	Aorta	Aorta
29	chr7:104945200-104946000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:104945200-104946000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr7:104945200-104946200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:104945200-104946400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:104945200-104946400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:104945200-104946800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:104945200-104947400	Weak transcription	Thymus	Thymus
36	chr7:104945200-104947600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:104945200-104948400	Weak transcription	Adipose Nuclei	Adipose
38	chr7:104945200-104949200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:104945200-104949400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:104945200-104949400	Weak transcription	HSMMtube	muscle
41	chr7:104945200-104949800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:104945200-104950200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:104945200-104950200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr7:104945200-104950200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:104945200-104950200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:104945200-104950400	Weak transcription	HSMM	muscle
47	chr7:104945400-104946400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:104945400-104946400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:104945400-104946400	Weak transcription	Brain Anterior Caudate	brain
50	chr7:104945400-104946400	Weak transcription	Small Intestine	intestine

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