Variant report

Variant	rs12138968
Chromosome Location	chr1:113530627-113530628
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113511237..113513302-chr1:113530269..113532997,2	K562	blood:
2	chr1:113497031..113498756-chr1:113528559..113531199,2	K562	blood:

Variant related genes	Relation type
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11102561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11102584	1.00[AMR][1000 genomes]
rs11102586	1.00[AMR][1000 genomes]
rs11102588	1.00[AMR][1000 genomes]
rs12071491	1.00[ASN][1000 genomes]
rs12117273	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12118061	1.00[AMR][1000 genomes]
rs12118642	1.00[AMR][1000 genomes]
rs12120738	1.00[AMR][1000 genomes]
rs12123072	1.00[ASN][1000 genomes]
rs12123519	1.00[ASN][1000 genomes]
rs12126316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127415	1.00[AMR][1000 genomes]
rs12128658	1.00[AMR][1000 genomes]
rs12129858	1.00[AMR][1000 genomes]
rs12133057	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12136395	1.00[AMR][1000 genomes]
rs12137299	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12140067	1.00[ASN][1000 genomes]
rs12140651	1.00[AMR][1000 genomes]
rs12140676	1.00[AMR][1000 genomes]
rs12141018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141415	1.00[ASN][1000 genomes]
rs12143171	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12143341	1.00[ASN][1000 genomes]
rs12143430	1.00[AMR][1000 genomes]
rs12184272	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12184320	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12744661	1.00[ASN][1000 genomes]
rs17031006	1.00[AMR][1000 genomes]
rs41296184	1.00[AMR][1000 genomes]
rs41306207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335344	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982435	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000320	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000335	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535389	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541119	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7545814	1.00[ASN][1000 genomes]
rs9429503	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
14	esv1827123	chr1:113496841-113531848	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
15	esv2592828	chr1:113528459-113533118	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3452438	chr1:113529073-113532922	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3452439	chr1:113529261-113532735	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3452440	chr1:113529275-113532733	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv12789	chr1:113529358-113532563	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113500600-113535400	Weak transcription	Aorta	Aorta
2	chr1:113510600-113537000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:113510800-113541800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:113511000-113531200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:113511200-113538400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:113511200-113540000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:113511200-113540800	Weak transcription	HSMM	muscle
8	chr1:113511200-113545800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:113511200-113546400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr1:113511200-113558000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr1:113511200-113558600	Weak transcription	NHDF-Ad	bronchial
12	chr1:113511200-113564000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:113511800-113534000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:113511800-113540200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:113512200-113534000	Weak transcription	Fetal Stomach	stomach
16	chr1:113513600-113530800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:113513800-113536600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:113513800-113536800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:113513800-113541000	Weak transcription	Hela-S3	cervix
20	chr1:113514000-113541200	Weak transcription	K562	blood
21	chr1:113516800-113541000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:113517200-113540400	Weak transcription	HepG2	liver
23	chr1:113517800-113542800	Weak transcription	Dnd41	blood
24	chr1:113519600-113538600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:113526400-113534000	Weak transcription	Stomach Mucosa	stomach
26	chr1:113526400-113535200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:113526400-113540200	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:113526400-113540600	Weak transcription	Primary T cells from cord blood	blood
29	chr1:113526400-113541600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:113526600-113564200	Weak transcription	Placenta	Placenta
31	chr1:113526800-113558600	Weak transcription	GM12878-XiMat	blood
32	chr1:113527000-113540600	Weak transcription	Primary B cells from cord blood	blood
33	chr1:113528200-113537000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:113528200-113556600	Weak transcription	Small Intestine	intestine
35	chr1:113528800-113537000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:113529000-113554400	Weak transcription	Lung	lung
37	chr1:113529200-113530800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:113529200-113530800	Weak transcription	NHEK	skin
39	chr1:113529200-113535000	Weak transcription	Left Ventricle	heart
40	chr1:113529400-113530800	Weak transcription	Fetal Heart	heart
41	chr1:113529400-113531000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:113529400-113534000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:113529400-113535000	Weak transcription	Psoas Muscle	Psoas
44	chr1:113529400-113538400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:113529400-113540200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:113529600-113536800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:113530200-113531000	Enhancers	Right Ventricle	heart
48	chr1:113530400-113531400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:113530600-113531800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:113530600-113532000	Enhancers	Liver	Liver

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