Variant report

Variant	rs73715548
Chromosome Location	chr7:104910558-104910559
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SREBP1	chr7:104907743-104910729	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104909811..104911853-chr7:104934398..104937099,2	K562	blood:

Variant related genes	Relation type
SRPK2	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs13233843	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55638165	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55715849	1.00[AMR][1000 genomes]
rs55921215	1.00[AMR][1000 genomes]
rs56288108	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56966676	1.00[AMR][1000 genomes]
rs57051304	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57160311	1.00[AMR][1000 genomes]
rs57402653	1.00[AMR][1000 genomes]
rs57741635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58907242	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59946584	1.00[AMR][1000 genomes]
rs60436179	1.00[AMR][1000 genomes]
rs61150364	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61280887	1.00[AMR][1000 genomes]
rs61285225	1.00[AMR][1000 genomes]
rs73715406	1.00[AMR][1000 genomes]
rs73715440	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715442	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715443	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715444	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715445	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715447	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715450	1.00[AMR][1000 genomes]
rs73715543	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73715557	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73716651	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73716652	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73716698	1.00[AMR][1000 genomes]
rs73716700	1.00[AMR][1000 genomes]
rs73717956	1.00[AMR][1000 genomes]
rs73717964	1.00[AMR][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	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:104906400-104910600	Active TSS	Brain Anterior Caudate	brain
3	chr7:104906600-104910600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:104907400-104910600	Active TSS	Psoas Muscle	Psoas
5	chr7:104907400-104910800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:104908000-104924600	Weak transcription	Spleen	Spleen
7	chr7:104909200-104910600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:104909200-104910600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:104909200-104910600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:104909200-104910800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:104909400-104912600	Weak transcription	Small Intestine	intestine
12	chr7:104909400-104918000	Weak transcription	Esophagus	oesophagus
13	chr7:104909400-104918400	Weak transcription	Pancreas	Pancrea
14	chr7:104909600-104910600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr7:104909600-104910800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:104909600-104910800	Enhancers	HSMM	muscle
17	chr7:104909600-104912000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:104909600-104916000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:104909600-104924200	Weak transcription	Left Ventricle	heart
20	chr7:104909800-104910600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:104909800-104910600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr7:104909800-104910800	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr7:104910000-104910600	Weak transcription	Placenta	Placenta
24	chr7:104910000-104911000	Flanking Active TSS	Dnd41	blood
25	chr7:104910200-104910600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:104910200-104910600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr7:104910200-104910600	Flanking Active TSS	A549	lung
28	chr7:104910200-104910800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr7:104910200-104910800	Enhancers	Liver	Liver
30	chr7:104910200-104910800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:104910200-104910800	Enhancers	Fetal Heart	heart
32	chr7:104910200-104910800	Enhancers	Fetal Lung	lung
33	chr7:104910200-104910800	Enhancers	Hela-S3	cervix
34	chr7:104910200-104912000	Weak transcription	Ovary	ovary
35	chr7:104910200-104912200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:104910200-104916200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:104910200-104917400	Weak transcription	HSMMtube	muscle
38	chr7:104910200-104917800	Weak transcription	NH-A	brain
39	chr7:104910200-104918400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:104910200-104919200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr7:104910200-104919800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:104910200-104919800	Weak transcription	Aorta	Aorta
43	chr7:104910200-104919800	Weak transcription	Fetal Stomach	stomach
44	chr7:104910200-104919800	Weak transcription	HepG2	liver
45	chr7:104910200-104924400	Weak transcription	Right Ventricle	heart
46	chr7:104910200-104925600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:104910200-104935000	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:104910400-104910600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:104910400-104910600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:104910400-104910600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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