Variant report

Variant	rs12144884
Chromosome Location	chr1:212315832-212315833
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212311249..212313594-chr1:212314365..212316630,2	K562	blood:
2	chr1:212305625..212307836-chr1:212314959..212318281,3	K562	blood:
3	chr1:212310229..212317191-chr1:212455789..212461677,10	MCF-7	breast:
4	chr1:212314893..212318447-chr1:212320159..212322385,3	K562	blood:

Variant related genes	Relation type
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10779569	1.00[YRI][hapmap]
rs11119865	1.00[YRI][hapmap]
rs11119919	1.00[YRI][hapmap]
rs12122247	1.00[YRI][hapmap]
rs12122488	1.00[YRI][hapmap]
rs12125159	1.00[YRI][hapmap]
rs12125796	1.00[YRI][hapmap]
rs12126761	1.00[YRI][hapmap]
rs12130548	1.00[YRI][hapmap]
rs12131060	1.00[YRI][hapmap]
rs12132233	1.00[YRI][hapmap]
rs12145020	1.00[YRI][hapmap]
rs12747761	1.00[YRI][hapmap]
rs2358448	1.00[YRI][hapmap]
rs3795836	1.00[YRI][hapmap]
rs6661987	1.00[YRI][hapmap]

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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212287400-212320600	Weak transcription	A549	lung
2	chr1:212300000-212320800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:212301000-212321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:212304000-212316400	Weak transcription	Fetal Stomach	stomach
5	chr1:212309000-212320800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:212309000-212320800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:212309000-212321000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:212309000-212347200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:212313000-212316600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:212313400-212316400	Weak transcription	Esophagus	oesophagus
11	chr1:212313400-212317800	Weak transcription	Psoas Muscle	Psoas
12	chr1:212313400-212319400	Weak transcription	Stomach Mucosa	stomach
13	chr1:212313400-212320600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:212313400-212325800	Weak transcription	Right Atrium	heart
15	chr1:212313400-212326200	Weak transcription	Colonic Mucosa	Colon
16	chr1:212313600-212324400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:212314400-212332200	Weak transcription	Dnd41	blood
18	chr1:212315000-212320400	Weak transcription	Thymus	Thymus
19	chr1:212315200-212320600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:212315400-212318200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:212315800-212316600	Enhancers	K562	blood
22	chr1:212315800-212320400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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