Variant report

Variant	rs4849070
Chromosome Location	chr2:113287329-113287330
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113285064..113288834-chr2:113298277..113302791,7	MCF-7	breast:
2	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: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1561266	0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs2043737	0.83[AFR][1000 genomes]
rs7506	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7578685	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

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	chr2:113272600-113287400	Weak transcription	Fetal Kidney	kidney
6	chr2:113277600-113287400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:113277800-113290000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:113279000-113299200	Weak transcription	Psoas Muscle	Psoas
9	chr2:113280200-113288800	Weak transcription	K562	blood
10	chr2:113281200-113299000	Weak transcription	Colonic Mucosa	Colon
11	chr2:113284800-113291200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:113285600-113291400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:113285800-113287800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:113285800-113288800	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr2:113285800-113289800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr2:113285800-113289800	Strong transcription	Ovary	ovary
17	chr2:113285800-113289800	Strong transcription	NHDF-Ad	bronchial
18	chr2:113285800-113290400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:113285800-113290600	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:113285800-113290800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:113285800-113291200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:113285800-113291200	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:113285800-113291200	Strong transcription	Thymus	Thymus
24	chr2:113285800-113291200	Strong transcription	Osteobl	bone
25	chr2:113285800-113291400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:113285800-113291400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:113285800-113291400	Strong transcription	Dnd41	blood
28	chr2:113285800-113291600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:113285800-113291600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:113286000-113287800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:113286000-113288000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:113286000-113288000	Strong transcription	HUVEC	blood vessel
33	chr2:113286000-113288400	Genic enhancers	Brain Hippocampus Middle	brain
34	chr2:113286000-113289600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr2:113286000-113290000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:113286000-113291000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:113286000-113291200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:113286000-113291400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:113286000-113291400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:113286000-113291400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr2:113286000-113291400	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:113286000-113291400	Strong transcription	Fetal Thymus	thymus
43	chr2:113286000-113291400	Strong transcription	Left Ventricle	heart
44	chr2:113286000-113291600	Strong transcription	Fetal Stomach	stomach
45	chr2:113286000-113291600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr2:113286000-113292200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:113286000-113292200	Strong transcription	Fetal Brain Female	brain
48	chr2:113286200-113287400	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:113286200-113287400	Strong transcription	Hela-S3	cervix
50	chr2:113286200-113287600	Strong transcription	H9 Cell Line	embryonic stem cell

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