Variant report

Variant	rs73960426
Chromosome Location	chr2:98522201-98522202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98519788..98522524-chr2:98522979..98525608,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55804443	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55853292	0.86[AFR][1000 genomes]
rs55887737	0.80[AFR][1000 genomes]
rs56319654	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56954126	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58576615	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59444417	0.81[AFR][1000 genomes]
rs60567628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61363543	0.89[AFR][1000 genomes]
rs62154555	0.84[AFR][1000 genomes]
rs62154556	0.84[AFR][1000 genomes]
rs62154558	0.84[AFR][1000 genomes]
rs62156482	0.89[AFR][1000 genomes]
rs62156488	0.86[AFR][1000 genomes]
rs62156509	0.84[AFR][1000 genomes]
rs73960406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960407	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73960434	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575922	0.84[AFR][1000 genomes]
rs7576509	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98503600-98522800	Weak transcription	HUVEC	blood vessel
2	chr2:98503800-98522600	Weak transcription	Fetal Kidney	kidney
3	chr2:98503800-98522800	Weak transcription	K562	blood
4	chr2:98503800-98524800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:98503800-98528600	Weak transcription	NHDF-Ad	bronchial
6	chr2:98503800-98536400	Weak transcription	HSMMtube	muscle
7	chr2:98504000-98522400	Weak transcription	Primary B cells from cord blood	blood
8	chr2:98504000-98522800	Weak transcription	Fetal Brain Female	brain
9	chr2:98504000-98523000	Weak transcription	Psoas Muscle	Psoas
10	chr2:98504000-98523600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:98504000-98528000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:98504000-98533800	Weak transcription	Spleen	Spleen
13	chr2:98504000-98538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:98504000-98540600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:98504000-98540800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:98504200-98522400	Weak transcription	Ovary	ovary
17	chr2:98504200-98522800	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:98504200-98523000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:98504200-98523000	Weak transcription	Left Ventricle	heart
20	chr2:98504200-98525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:98504200-98530800	Weak transcription	Thymus	Thymus
22	chr2:98504400-98522800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:98504400-98527000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:98504600-98522400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:98504600-98522400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:98504600-98522400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:98504600-98522400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:98504600-98522800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:98504600-98523000	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:98504600-98523000	Weak transcription	Dnd41	blood
31	chr2:98504600-98523200	Weak transcription	Liver	Liver
32	chr2:98504600-98524200	Weak transcription	Adipose Nuclei	Adipose
33	chr2:98504600-98524200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:98504600-98525600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:98504600-98540800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:98504600-98552200	Weak transcription	NHLF	lung
37	chr2:98504800-98527400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:98505000-98523400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:98505400-98522800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:98505400-98523000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr2:98505400-98528800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:98505400-98530200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:98505800-98522800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:98507600-98535000	Weak transcription	Brain Anterior Caudate	brain
45	chr2:98508000-98522600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:98509000-98536400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:98514000-98522400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:98515800-98540800	Weak transcription	Aorta	Aorta
49	chr2:98516400-98534600	Weak transcription	A549	lung
50	chr2:98517200-98522800	Weak transcription	HMEC	breast

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