Variant report

Variant	rs12088791
Chromosome Location	chr1:10447215-10447216
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:10447072-10449043	A549	lung:	n/a	n/a
2	ZNF384	chr1:10447044-10447346	K562	blood:	n/a	n/a
3	TCF12	chr1:10447110-10449165	A549	lung:	n/a	n/a
4	SP1	chr1:10447095-10448986	A549	lung:	n/a	n/a
5	MAX	chr1:10447200-10448953	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10447111..10452516-chr1:10455817..10460024,9	K562	blood:
2	chr1:10446950..10451985-chr1:10457311..10462205,6	K562	blood:
3	chr1:10446399..10450088-chr1:10457513..10461303,7	MCF-7	breast:
4	chr1:10447080..10448885-chr1:10454434..10456655,2	MCF-7	breast:
5	chr1:10446221..10450110-chr1:10457451..10462205,13	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL721P	TF binding region
ENSG00000142657	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11121558	0.88[EUR][1000 genomes]
rs12088368	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12093245	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12088791	LZIC	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10400600-10447400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:10409800-10447400	Weak transcription	Small Intestine	intestine
3	chr1:10425800-10447800	Weak transcription	Psoas Muscle	Psoas
4	chr1:10434400-10447400	Weak transcription	HMEC	breast
5	chr1:10435400-10447800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:10435400-10448000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:10435600-10447400	Weak transcription	Aorta	Aorta
8	chr1:10435600-10447600	Weak transcription	Thymus	Thymus
9	chr1:10435600-10448800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:10435600-10448800	Weak transcription	Gastric	stomach
11	chr1:10435800-10448000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:10436800-10448400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr1:10437000-10447800	Weak transcription	Left Ventricle	heart
14	chr1:10437000-10448000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:10437400-10447600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:10437600-10447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:10438600-10458200	Weak transcription	Right Atrium	heart
18	chr1:10438800-10447600	Weak transcription	Fetal Kidney	kidney
19	chr1:10438800-10448000	Weak transcription	Spleen	Spleen
20	chr1:10439000-10447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:10439000-10448200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:10439200-10447600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:10439400-10447400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:10439600-10447400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:10439600-10447400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:10439600-10447600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:10439600-10447800	Weak transcription	Primary T cells from cord blood	blood
28	chr1:10439600-10448000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:10439600-10458200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:10439800-10447600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:10440000-10447400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:10440000-10447400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:10440000-10447600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:10440000-10447600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:10440000-10447800	Weak transcription	Colonic Mucosa	Colon
36	chr1:10440000-10451800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:10440000-10458400	Weak transcription	Lung	lung
38	chr1:10440400-10447800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:10441400-10447400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:10441600-10447600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:10441800-10447600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:10441800-10447600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:10441800-10447600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr1:10441800-10447600	Weak transcription	NH-A	brain
45	chr1:10441800-10447600	Weak transcription	NHLF	lung
46	chr1:10442000-10447600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:10443400-10447600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:10443800-10447600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:10444000-10447400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:10444800-10447400	Weak transcription	Brain Cingulate Gyrus	brain

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