Variant report

Variant	rs2237621
Chromosome Location	chr7:104891891-104891892
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104880747..104883616-chr7:104889920..104892326,2	MCF-7	breast:
2	chr7:104890216..104893018-chr7:104897423..104900351,2	K562	blood:
3	chr7:104884623..104887492-chr7:104890024..104891908,2	K562	blood:
4	chr7:104890079..104892213-chr7:104894291..104897029,3	K562	blood:

Variant related genes	Relation type
ENSG00000213361	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1204064	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1204075	0.80[AMR][1000 genomes]
rs17146101	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs56761753	1.00[EUR][1000 genomes]
rs58572049	1.00[EUR][1000 genomes]
rs60247952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73407839	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7806600	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104869200-104892000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:104869600-104909200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:104872200-104897200	Weak transcription	Primary T cells from cord blood	blood
4	chr7:104875000-104893800	Genic enhancers	Dnd41	blood
5	chr7:104877200-104898400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:104879000-104907800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:104879600-104897400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:104879800-104896800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:104882400-104892400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:104885400-104907000	Weak transcription	Fetal Intestine Small	intestine
11	chr7:104886000-104902200	Weak transcription	Lung	lung
12	chr7:104886400-104893200	Weak transcription	Left Ventricle	heart
13	chr7:104886400-104916600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:104886600-104892200	Weak transcription	HUVEC	blood vessel
15	chr7:104886600-104895200	Weak transcription	Pancreas	Pancrea
16	chr7:104886600-104896800	Weak transcription	Right Atrium	heart
17	chr7:104886800-104898000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr7:104887000-104897200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:104887200-104897400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:104887400-104893800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr7:104887400-104896800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:104887600-104892000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:104887600-104892000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:104887600-104897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:104887600-104897200	Weak transcription	HSMM	muscle
26	chr7:104887800-104892600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:104887800-104893400	Weak transcription	Fetal Lung	lung
28	chr7:104887800-104895800	Weak transcription	Thymus	Thymus
29	chr7:104887800-104897200	Weak transcription	K562	blood
30	chr7:104887800-104897400	Weak transcription	Fetal Heart	heart
31	chr7:104888000-104897400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:104888400-104892000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:104888800-104892200	Enhancers	Brain Anterior Caudate	brain
34	chr7:104889400-104892000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:104889400-104893000	Enhancers	Brain Hippocampus Middle	brain
36	chr7:104889400-104893200	Enhancers	Brain Substantia Nigra	brain
37	chr7:104889400-104894000	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:104889400-104896800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr7:104889600-104896000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:104889600-104902200	Weak transcription	HMEC	breast
41	chr7:104889800-104896200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:104890200-104894800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:104890200-104897600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr7:104890400-104897600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr7:104890600-104892200	Enhancers	Brain Angular Gyrus	brain
46	chr7:104890800-104892800	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr7:104890800-104895000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr7:104890800-104896200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:104891200-104892800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr7:104891200-104893200	Enhancers	HUES64 Cell Line	embryonic stem cell

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