Variant report

Variant	rs1204073
Chromosome Location	chr7:104980134-104980135
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104631887..104634402-chr7:104980018..104981541,2	K562	blood:
2	chr7:104974522..104976847-chr7:104979071..104980731,2	K562	blood:
3	chr7:104837867..104839378-chr7:104977960..104980667,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10236872	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1204068	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1204070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1204072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1204076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4727620	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs940502	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9641350	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
12	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
13	nsv1034689	chr7:104950564-105085879	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104948600-104988000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:104957400-104986800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:104958000-104983200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:104961600-104980200	Weak transcription	Psoas Muscle	Psoas
5	chr7:104962800-104992600	Weak transcription	Fetal Intestine Small	intestine
6	chr7:104963000-104983000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:104963200-104991200	Weak transcription	Fetal Stomach	stomach
8	chr7:104964200-104983200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:104964400-104983400	Weak transcription	Primary T cells from cord blood	blood
10	chr7:104966200-104980600	Weak transcription	Primary B cells from cord blood	blood
11	chr7:104966200-104985800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:104967200-104986200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:104968200-104986800	Weak transcription	Gastric	stomach
14	chr7:104972200-104983200	Weak transcription	A549	lung
15	chr7:104972400-104983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:104973200-104983200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:104973200-104998800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:104973600-104980800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:104973600-104981000	Weak transcription	K562	blood
20	chr7:104973600-104981600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:104973800-104980200	Weak transcription	Lung	lung
22	chr7:104973800-104985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:104976200-104980400	Weak transcription	NHLF	lung
24	chr7:104976800-104991600	Weak transcription	HSMM	muscle
25	chr7:104978200-104985800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:104978400-104986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:104978400-104988000	Weak transcription	Fetal Brain Male	brain
28	chr7:104979600-104983200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:104979800-104980200	Enhancers	Brain Angular Gyrus	brain
30	chr7:104979800-104980200	Enhancers	HUVEC	blood vessel
31	chr7:104979800-104980400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr7:104979800-104980600	Enhancers	Liver	Liver
33	chr7:104979800-104980600	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr7:104980000-104980200	Enhancers	Brain Anterior Caudate	brain
35	chr7:104980000-104980200	Genic enhancers	Fetal Muscle Leg	muscle
36	chr7:104980000-104980400	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:104980000-104980400	Enhancers	Brain Hippocampus Middle	brain
38	chr7:104980000-104980400	Enhancers	Esophagus	oesophagus
39	chr7:104980000-104980400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:104980000-104980400	Enhancers	Left Ventricle	heart
41	chr7:104980000-104980400	Enhancers	Ovary	ovary
42	chr7:104980000-104980400	Enhancers	Pancreas	Pancrea
43	chr7:104980000-104980400	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:104980000-104980400	Enhancers	Right Atrium	heart
45	chr7:104980000-104980400	Enhancers	Right Ventricle	heart
46	chr7:104980000-104980400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr7:104980000-104980400	Enhancers	Spleen	Spleen
48	chr7:104980000-104981400	Enhancers	Dnd41	blood
49	chr7:104980000-104984200	Enhancers	Primary T cells fromperipheralblood	blood

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