Variant report

Variant	rs9366621
Chromosome Location	chr6:25410954-25410955
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25409840..25412613-chr6:25418004..25420137,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17317669	0.85[MEX][hapmap]
rs4368803	0.82[CHD][hapmap];1.00[JPT][hapmap]
rs4440453	1.00[ASW][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes]
rs9358854	0.93[JPT][hapmap]
rs9379762	0.93[JPT][hapmap]
rs9379763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883485	chr6:25259137-25437986	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv883486	chr6:25260434-25422369	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv883487	chr6:25280119-25508868	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv830612	chr6:25342408-25509758	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1850810	chr6:25405576-25462543	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9366621	KIAA0319	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25405200-25413200	Weak transcription	Fetal Lung	lung
2	chr6:25405800-25411600	Enhancers	Fetal Thymus	thymus
3	chr6:25405800-25412600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:25406000-25413200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr6:25406200-25411600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:25406400-25420200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:25406600-25411600	Weak transcription	Colonic Mucosa	Colon
8	chr6:25407200-25413200	Weak transcription	Spleen	Spleen
9	chr6:25407200-25420200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr6:25407800-25412600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:25408000-25413200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:25408200-25411800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:25408200-25412800	Weak transcription	Aorta	Aorta
14	chr6:25408200-25413000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr6:25408400-25411600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:25408400-25413000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:25408400-25413200	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:25408400-25415400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:25408400-25416000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:25408600-25417200	Weak transcription	Primary B cells from cord blood	blood
21	chr6:25408800-25412800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:25409000-25413200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:25409000-25419000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:25409400-25411800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:25409600-25412000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr6:25409800-25411600	Enhancers	Left Ventricle	heart
27	chr6:25409800-25412000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:25409800-25413600	Weak transcription	Stomach Mucosa	stomach
29	chr6:25409800-25415200	Enhancers	Small Intestine	intestine
30	chr6:25410000-25411000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:25410200-25411000	Enhancers	Primary hematopoietic stem cells	blood
32	chr6:25410200-25411000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:25410400-25411000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:25410400-25411000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr6:25410400-25411000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr6:25410400-25411200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr6:25410400-25411600	Enhancers	Duodenum Mucosa	Duodenum
38	chr6:25410400-25413600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr6:25410400-25414000	Enhancers	Primary B cells from peripheral blood	blood
40	chr6:25410400-25415600	Enhancers	Thymus	Thymus
41	chr6:25410600-25411000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr6:25410600-25411000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr6:25410600-25411000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr6:25410600-25411000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:25410600-25411000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr6:25410600-25411000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:25410600-25411000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr6:25410600-25411000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:25410600-25411000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:25410600-25411000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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