Variant report

Variant	rs2232635
Chromosome Location	chr1:154966221-154966222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154964932..154968514-chr1:155033457..155035305,3	K562	blood:
2	chr1:154965302..154967303-chr1:155021616..155024587,2	MCF-7	breast:
3	chr1:154964452..154967253-chr1:155056119..155059048,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143590	Chromatin interaction
ENSG00000143537	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12059540	1.00[MEX][hapmap]
rs12064595	1.00[MEX][hapmap]
rs12078687	1.00[MEX][hapmap]
rs12092479	1.00[MEX][hapmap]
rs9236	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv872453	chr1:154904840-154995503	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv872454	chr1:154904840-155079477	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
4	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2232635	KCNN3	cis	lymphoblastoid	seeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154956800-154971200	Weak transcription	Fetal Heart	heart
2	chr1:154956800-154971400	Weak transcription	Fetal Kidney	kidney
3	chr1:154957000-154971400	Weak transcription	NHDF-Ad	bronchial
4	chr1:154957400-154971800	Weak transcription	Small Intestine	intestine
5	chr1:154958600-154967200	Strong transcription	Fetal Stomach	stomach
6	chr1:154961600-154970400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:154961600-154970800	Weak transcription	Psoas Muscle	Psoas
8	chr1:154961800-154971400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:154962000-154967000	Strong transcription	Stomach Smooth Muscle	stomach
10	chr1:154962000-154971400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:154962000-154971400	Weak transcription	Fetal Brain Male	brain
12	chr1:154962200-154971600	Weak transcription	HepG2	liver
13	chr1:154962400-154966400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:154962400-154966400	Strong transcription	Fetal Intestine Small	intestine
15	chr1:154962400-154971400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:154962600-154968200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:154962800-154966600	Strong transcription	Brain Germinal Matrix	brain
18	chr1:154962800-154969800	Weak transcription	GM12878-XiMat	blood
19	chr1:154963000-154966800	Weak transcription	Hela-S3	cervix
20	chr1:154963000-154970800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr1:154963000-154971400	Weak transcription	Colonic Mucosa	Colon
22	chr1:154963200-154966400	Weak transcription	Dnd41	blood
23	chr1:154963200-154966600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:154963200-154967200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:154963200-154968200	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:154963200-154968200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:154963200-154968600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:154963200-154969600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:154963200-154969800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:154963200-154969800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:154963200-154970000	Weak transcription	Primary T cells from cord blood	blood
32	chr1:154963200-154970800	Weak transcription	Fetal Intestine Large	intestine
33	chr1:154963200-154970800	Weak transcription	Pancreas	Pancrea
34	chr1:154963200-154971200	Weak transcription	Brain Anterior Caudate	brain
35	chr1:154963200-154971400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:154963200-154971400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:154963200-154971400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:154963200-154971400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:154963200-154971400	Weak transcription	Brain Substantia Nigra	brain
40	chr1:154963200-154971400	Weak transcription	Left Ventricle	heart
41	chr1:154963200-154971400	Weak transcription	Ovary	ovary
42	chr1:154963200-154971400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:154963200-154971400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:154963200-154971400	Weak transcription	Right Ventricle	heart
45	chr1:154963200-154971600	Weak transcription	Aorta	Aorta
46	chr1:154963200-154971600	Weak transcription	HMEC	breast
47	chr1:154963200-154971600	Weak transcription	NHEK	skin
48	chr1:154963200-154971800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:154963200-154972400	Weak transcription	HSMMtube	muscle
50	chr1:154963400-154969800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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