Variant report

Variant	rs2232422
Chromosome Location	chr6:28366262-28366263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28364273..28366438-chr6:28510597..28512229,2	K562	blood:
2	chr6:28315597..28319153-chr6:28366055..28369015,3	K562	blood:
3	chr6:28364231..28371937-chr6:28372195..28378158,17	K562	blood:
4	chr6:28365591..28367177-chr6:28449783..28452341,2	K562	blood:
5	chr6:28082452..28085124-chr6:28366168..28368167,2	K562	blood:
6	chr6:28302165..28304933-chr6:28366158..28368845,2	K562	blood:
7	chr6:28191542..28193155-chr6:28365970..28368318,2	K562	blood:
8	chr6:28225119..28227553-chr6:28366156..28368716,2	K562	blood:
9	chr6:28365707..28367245-chr6:28405846..28408516,2	K562	blood:
10	chr6:28109361..28111458-chr6:28362788..28366324,4	K562	blood:
11	chr6:27857864..27860590-chr6:28365932..28368425,2	K562	blood:
12	chr6:28191542..28194803-chr6:28365970..28368645,4	K562	blood:
13	chr6:28109524..28111212-chr6:28366058..28368601,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187626	Chromatin interaction
ENSG00000189134	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000219392	Chromatin interaction
ENSG00000198315	Chromatin interaction
ENSG00000137185	Chromatin interaction
ENSG00000251877	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1062169	0.89[CEU][hapmap]
rs1150697	0.80[CEU][hapmap]
rs1150699	0.80[CEU][hapmap]
rs1150704	0.80[CEU][hapmap]
rs1150714	1.00[CEU][hapmap]
rs11752073	0.89[CEU][hapmap];0.85[CHD][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs1233664	0.80[CEU][hapmap]
rs1233665	0.80[CEU][hapmap]
rs1233666	0.80[CEU][hapmap]
rs1474589	1.00[CEU][hapmap]
rs16893817	0.80[CEU][hapmap]
rs16893937	1.00[CEU][hapmap]
rs16894116	1.00[CHB][hapmap]
rs16901846	0.89[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs16901847	1.00[CHB][hapmap]
rs17312661	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.84[LWK][hapmap];1.00[ASN][1000 genomes]
rs1736890	0.80[CEU][hapmap]
rs2232428	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap]
rs2281043	1.00[CEU][hapmap]
rs2394102	0.80[EUR][1000 genomes]
rs3800325	1.00[CEU][hapmap]
rs6456811	1.00[CEU][hapmap]
rs6917759	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs6923170	1.00[CEU][hapmap]
rs7744788	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs7766356	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7769054	0.80[CEU][hapmap]
rs993619	0.80[CEU][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2232422	ZNF323	cis	parietal	SCAN
rs2232422	ZSCAN23	cis	cerebellum	SCAN
rs2232422	HIST1H4C	cis	parietal	SCAN
rs2232422	ZSCAN23	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28359200-28366600	Weak transcription	Right Ventricle	heart
2	chr6:28359400-28366600	Weak transcription	Psoas Muscle	Psoas
3	chr6:28359400-28366800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr6:28359600-28366800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:28359800-28366800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr6:28359800-28366800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:28360800-28366600	Weak transcription	Colonic Mucosa	Colon
8	chr6:28361000-28366600	Weak transcription	Fetal Kidney	kidney
9	chr6:28361000-28366800	Weak transcription	Aorta	Aorta
10	chr6:28361000-28366800	Weak transcription	Placenta	Placenta
11	chr6:28361200-28366800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:28361800-28366800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:28363000-28366400	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr6:28363200-28366600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr6:28363200-28366800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:28363800-28366400	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr6:28363800-28366600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr6:28364200-28366400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:28364600-28366800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:28364800-28366400	Genic enhancers	Fetal Stomach	stomach
21	chr6:28365000-28366400	Genic enhancers	Primary T cells from cord blood	blood
22	chr6:28365000-28366400	Flanking Active TSS	HMEC	breast
23	chr6:28365000-28366600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:28365000-28366800	Weak transcription	Stomach Mucosa	stomach
25	chr6:28365000-28367000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:28365200-28366600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:28365200-28366600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr6:28365600-28366400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr6:28365600-28366400	Flanking Active TSS	Hela-S3	cervix
30	chr6:28365600-28366600	Enhancers	Brain Substantia Nigra	brain
31	chr6:28365600-28366800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:28365800-28366400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:28365800-28366400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr6:28365800-28366400	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:28365800-28366400	Enhancers	Right Atrium	heart
36	chr6:28365800-28366400	Flanking Active TSS	NHLF	lung
37	chr6:28365800-28366600	Weak transcription	Primary B cells from cord blood	blood
38	chr6:28365800-28366600	Enhancers	Fetal Brain Male	brain
39	chr6:28365800-28366600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr6:28365800-28366600	Weak transcription	NH-A	brain
41	chr6:28366000-28366400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:28366000-28366400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
43	chr6:28366000-28366400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:28366000-28366400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:28366000-28366400	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr6:28366000-28366400	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr6:28366000-28366400	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr6:28366000-28366400	Flanking Active TSS	Fetal Brain Female	brain
49	chr6:28366000-28366400	Flanking Active TSS	HUVEC	blood vessel
50	chr6:28366000-28366400	Flanking Active TSS	NHDF-Ad	bronchial

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