Variant report

Variant	rs213233
Chromosome Location	chr6:28325675-28325676
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28303323..28305430-chr6:28323198..28325730,3	MCF-7	breast:
2	chr6:27806208..27808710-chr6:28325412..28327326,2	K562	blood:
3	chr6:28325434..28327610-chr6:28328938..28331453,3	MCF-7	breast:
4	chr6:28182735..28195387-chr6:28315960..28325841,32	K562	blood:
5	chr6:28102868..28106057-chr6:28324401..28327224,3	K562	blood:
6	chr6:27856204..27858764-chr6:28323949..28325832,2	K562	blood:
7	chr6:28109157..28111504-chr6:28323298..28325916,3	K562	blood:

Variant related genes	Relation type
ENSG00000269293	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000176933	Chromatin interaction
ENSG00000261839	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10484542	1.00[CHB][hapmap]
rs12663002	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1416919	1.00[CHB][hapmap];0.97[CHD][hapmap]
rs16893917	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs16893973	1.00[CHB][hapmap]
rs16893975	1.00[CHB][hapmap];0.97[CHD][hapmap]
rs2021745	1.00[CEU][hapmap]
rs2077474	0.83[ASN][1000 genomes]
rs2159275	1.00[CHB][hapmap]
rs2531813	1.00[CEU][hapmap]
rs2531814	1.00[CEU][hapmap]
rs2859372	1.00[CEU][hapmap]
rs2859373	1.00[CEU][hapmap]
rs2859374	0.92[CEU][hapmap]
rs3800324	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs4711167	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs4713159	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs723475	1.00[CHB][hapmap];0.97[CHD][hapmap]
rs723476	1.00[CHB][hapmap];0.97[CHD][hapmap]
rs733743	0.83[JPT][hapmap]
rs742107	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs758397	0.83[ASN][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	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs213233	ZNF323	cis	cerebellar cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28318400-28332000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:28318400-28350800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:28324200-28328600	Weak transcription	Primary B cells from cord blood	blood
4	chr6:28324200-28331600	Weak transcription	Thymus	Thymus
5	chr6:28324400-28325800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:28324400-28326400	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:28324400-28326800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:28324400-28326800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:28324400-28326800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:28324400-28327000	Weak transcription	Placenta	Placenta
11	chr6:28324400-28327400	Weak transcription	Primary T cells from cord blood	blood
12	chr6:28324400-28327400	Weak transcription	Fetal Intestine Large	intestine
13	chr6:28324400-28327800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:28324400-28328200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:28324400-28328800	Weak transcription	Brain Anterior Caudate	brain
16	chr6:28324400-28329600	Weak transcription	Aorta	Aorta
17	chr6:28324400-28329600	Weak transcription	Fetal Intestine Small	intestine
18	chr6:28324400-28330600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:28324400-28330800	Weak transcription	Brain Substantia Nigra	brain
20	chr6:28324400-28331000	Weak transcription	Psoas Muscle	Psoas
21	chr6:28324400-28331000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:28324400-28331200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:28324400-28331600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:28324400-28332600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:28324400-28333000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:28324400-28333000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:28324400-28333200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:28324400-28336000	Weak transcription	GM12878-XiMat	blood
29	chr6:28324400-28347600	Weak transcription	NHDF-Ad	bronchial
30	chr6:28324400-28347800	Weak transcription	Fetal Brain Male	brain
31	chr6:28324400-28348200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:28324400-28357200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:28324400-28357600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr6:28324600-28326800	Weak transcription	Adipose Nuclei	Adipose
35	chr6:28324600-28327000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr6:28324600-28327000	Weak transcription	Fetal Stomach	stomach
37	chr6:28324600-28327200	Weak transcription	Brain Germinal Matrix	brain
38	chr6:28324600-28327200	Weak transcription	Fetal Brain Female	brain
39	chr6:28324600-28327200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:28324600-28327200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr6:28324600-28328200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr6:28324600-28328200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:28324600-28328200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:28324600-28328200	Weak transcription	Fetal Lung	lung
45	chr6:28324600-28328200	Weak transcription	Osteobl	bone
46	chr6:28324600-28328400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:28324600-28328400	Weak transcription	HSMMtube	muscle
48	chr6:28324600-28328800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:28324600-28329200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:28324600-28329600	Weak transcription	Pancreas	Pancrea

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