Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124248193..124250818-chr12:124252081..124254755,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1040156	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs10732574	0.81[CEU][hapmap]
rs10734905	0.81[CEU][hapmap]
rs10734908	0.80[EUR][1000 genomes]
rs10744160	0.85[CEU][hapmap];0.86[MEX][hapmap];0.84[EUR][1000 genomes]
rs10744161	0.84[CEU][hapmap]
rs10744162	0.85[CEU][hapmap];0.81[MEX][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10773032	0.81[EUR][1000 genomes]
rs10773034	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs10846549	0.80[EUR][1000 genomes]
rs10846550	0.80[EUR][1000 genomes]
rs10846553	0.80[CEU][hapmap]
rs12580486	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs2176152	0.81[CEU][hapmap]
rs2271660	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2271661	0.81[EUR][1000 genomes]
rs2333834	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2333836	0.81[EUR][1000 genomes]
rs2333837	0.80[EUR][1000 genomes]
rs2333838	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs34247974	0.81[EUR][1000 genomes]
rs7135542	0.81[CEU][hapmap]
rs7295552	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7301641	0.81[CEU][hapmap]
rs7302708	0.81[CEU][hapmap]
rs7308398	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7397745	0.81[CEU][hapmap];0.86[MEX][hapmap]
rs7397746	0.80[EUR][1000 genomes]
rs7398082	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs7398641	0.80[EUR][1000 genomes]
rs7398851	0.80[EUR][1000 genomes]
rs7399128	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs882563	0.81[CEU][hapmap];0.84[MEX][hapmap];0.80[EUR][1000 genomes]
rs9788204	0.80[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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs10082815	DDX55	cis	parietal	SCAN
rs10082815	TCTN2	cis	Artery Tibial	GTEx
rs10082815	TCTN2	cis	parietal	SCAN
rs10082815	TCTN2	cis	Nerve Tibial	GTEx
rs10082815	TCTN2	cis	Adipose Subcutaneous	GTEx
rs10082815	TCTN2	cis	Thyroid	GTEx
rs10082815	CABP1	cis	cerebellum	SCAN
rs10082815	TCTN2	cis	Esophagus Muscularis	GTEx
rs10082815	ATP6V0A2	cis	parietal	SCAN
rs10082815	DDX55	cis	cerebellum	SCAN
rs10082815	TCTN2	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124239800-124249400	Weak transcription	Brain Substantia Nigra	brain
2	chr12:124239800-124252000	Weak transcription	K562	blood
3	chr12:124244800-124254800	Weak transcription	HSMMtube	muscle
4	chr12:124247200-124251600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:124247600-124251800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:124247600-124252000	Weak transcription	Fetal Thymus	thymus
7	chr12:124247800-124250000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:124248000-124249600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:124248000-124249600	Enhancers	Fetal Intestine Small	intestine
10	chr12:124248000-124249600	Weak transcription	Dnd41	blood
11	chr12:124248000-124251600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:124248000-124251600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:124248000-124252200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:124248000-124252200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr12:124249000-124249400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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