Variant report

Variant	rs7604599
Chromosome Location	chr2:113288580-113288581
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113285064..113288834-chr2:113298277..113302791,7	MCF-7	breast:
2	chr2:113287458..113289198-chr2:113298107..113300239,2	MCF-7	breast:
3	chr2:113284781..113289468-chr2:113295871..113300752,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR1B-2	chr2:113286258-113289988	NONHSAT073697

Variant related genes	Relation type
ENSG00000125630	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1561265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34521619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3980068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59635443	1.00[EUR][1000 genomes]
rs72946336	1.00[EUR][1000 genomes]
rs72946337	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113241600-113292400	Weak transcription	Small Intestine	intestine
2	chr2:113260800-113298800	Weak transcription	Fetal Heart	heart
3	chr2:113267400-113290000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:113270600-113298800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:113277800-113290000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:113279000-113299200	Weak transcription	Psoas Muscle	Psoas
7	chr2:113280200-113288800	Weak transcription	K562	blood
8	chr2:113281200-113299000	Weak transcription	Colonic Mucosa	Colon
9	chr2:113284800-113291200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:113285600-113291400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:113285800-113288800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:113285800-113289800	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr2:113285800-113289800	Strong transcription	Ovary	ovary
14	chr2:113285800-113289800	Strong transcription	NHDF-Ad	bronchial
15	chr2:113285800-113290400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:113285800-113290600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr2:113285800-113290800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:113285800-113291200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:113285800-113291200	Strong transcription	Fetal Muscle Leg	muscle
20	chr2:113285800-113291200	Strong transcription	Thymus	Thymus
21	chr2:113285800-113291200	Strong transcription	Osteobl	bone
22	chr2:113285800-113291400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:113285800-113291400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:113285800-113291400	Strong transcription	Dnd41	blood
25	chr2:113285800-113291600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:113285800-113291600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:113286000-113289600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:113286000-113290000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:113286000-113291000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:113286000-113291200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:113286000-113291400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:113286000-113291400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:113286000-113291400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:113286000-113291400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:113286000-113291400	Strong transcription	Fetal Thymus	thymus
36	chr2:113286000-113291400	Strong transcription	Left Ventricle	heart
37	chr2:113286000-113291600	Strong transcription	Fetal Stomach	stomach
38	chr2:113286000-113291600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr2:113286000-113292200	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:113286000-113292200	Strong transcription	Fetal Brain Female	brain
41	chr2:113286200-113288800	Strong transcription	Esophagus	oesophagus
42	chr2:113286200-113288800	Strong transcription	Fetal Lung	lung
43	chr2:113286200-113289000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:113286200-113289400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:113286200-113289400	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:113286200-113289600	Strong transcription	Brain Germinal Matrix	brain
47	chr2:113286200-113289800	Strong transcription	Aorta	Aorta
48	chr2:113286200-113290000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:113286200-113290000	Strong transcription	Primary B cells from cord blood	blood
50	chr2:113286200-113290000	Strong transcription	NH-A	brain

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