Variant report

Variant	rs2230420
Chromosome Location	chr1:225607100-225607101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:225603763-225607494	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225605937..225609657-chr1:225612868..225616965,5	MCF-7	breast:
2	chr1:225604992..225607166-chr1:225612913..225616218,4	MCF-7	breast:

Variant related genes	Relation type
LBR	TF binding region
ENSG00000143815	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17558869	1.00[YRI][hapmap]
rs6686504	1.00[CHB][hapmap]

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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225582200-225610400	Strong transcription	Fetal Thymus	thymus
2	chr1:225584200-225610600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:225584800-225609800	Strong transcription	Dnd41	blood
4	chr1:225584800-225610400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:225585000-225610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:225585200-225609800	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:225585800-225610000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:225585800-225610000	Strong transcription	K562	blood
12	chr1:225585800-225610400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr1:225587600-225607800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:225587800-225610000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:225588200-225608200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:225588200-225610200	Strong transcription	Osteobl	bone
17	chr1:225588600-225608400	Strong transcription	Hela-S3	cervix
18	chr1:225588600-225609800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:225589000-225607400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:225590200-225610000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:225590600-225607200	Strong transcription	Primary T cells from cord blood	blood
22	chr1:225590600-225607400	Strong transcription	Thymus	Thymus
23	chr1:225590600-225607800	Strong transcription	Fetal Muscle Leg	muscle
24	chr1:225590600-225608400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:225590800-225608200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:225591800-225608200	Strong transcription	Brain Germinal Matrix	brain
27	chr1:225592800-225607400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr1:225593000-225610800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:225594600-225607200	Strong transcription	NHEK	skin
30	chr1:225595400-225610400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:225595600-225607600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:225595800-225608400	Strong transcription	Fetal Brain Female	brain
33	chr1:225596200-225607600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:225596800-225607600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:225596800-225610600	Strong transcription	HSMM	muscle
36	chr1:225597000-225607200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:225597400-225607600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:225597400-225608600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:225597400-225608600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:225597600-225607200	Strong transcription	Adipose Nuclei	Adipose
41	chr1:225597600-225609000	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:225597600-225609000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:225597600-225611200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:225597800-225607600	Strong transcription	Placenta	Placenta
45	chr1:225597800-225610000	Strong transcription	GM12878-XiMat	blood
46	chr1:225597800-225611200	Strong transcription	HMEC	breast
47	chr1:225597800-225611400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:225599200-225610600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:225599400-225609800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:225599800-225611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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