Variant report

Variant	rs3830155
Chromosome Location	chr12:121157611-121157612
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr12:121157096-121157617	HepG2	liver:	n/a	n/a
2	GATA1	chr12:121156872-121159133	PBDE	blood:	n/a	chr12:121156987-121157004 chr12:121157071-121157088
3	TEAD4	chr12:121157583-121157976	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121157589-121157639	NB4	blood:	n/a
2	chr12:121157589-121157639	HCF	heart:	n/a
3	chr12:121157589-121157639	HRPEpiC	eye:	n/a
4	chr12:121157589-121157639	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:121157589-121157639	HCPEpiC	choroid plexus:	n/a
6	chr12:121157589-121157639	BE2_C	brain:	n/a
7	chr12:121157589-121157639	HNPCEpiC	eye:	n/a
8	chr12:121157589-121157639	Hela-S3	cervix:	n/a
9	chr12:121157589-121157639	GM12878	blood:	n/a
10	chr12:121157589-121157639	GM12892	blood:	n/a
11	chr12:121157589-121157639	HIPEpiC	eye:	n/a
12	chr12:121157589-121157639	Caco-2	colon:	n/a
13	chr12:121157589-121157639	GM06990	blood:	n/a
14	chr12:121157589-121157639	GM19239	blood:	n/a
15	chr12:121157589-121157639	MCF-7	breast:	n/a
16	chr12:121157589-121157639	NHBE	bronchial:	n/a
17	chr12:121157589-121157639	PANC-1	pancreas:	n/a
18	chr12:121157589-121157639	SK-N-SH_RA	brain:	n/a
19	chr12:121157589-121157639	ECC-1	luminal epithelium:	n/a
20	chr12:121157589-121157639	ProgFib	skin:	n/a
21	chr12:121157589-121157639	HRE	kidney:	n/a
22	chr12:121157589-121157639	Hepatocyte	liver:	n/a
23	chr12:121157589-121157639	HEEpiC	esophagus:	n/a
24	chr12:121157589-121157639	A549	lung:	n/a
25	chr12:121157589-121157639	HMEC	breast:	n/a
26	chr12:121157589-121157639	SAEC	small airway:	n/a
27	chr12:121157589-121157639	AG10803	skin:	n/a
28	chr12:121157589-121157639	AG04449	skin:	fetal
29	chr12:121157589-121157639	SK-N-SH	brain:	n/a
30	chr12:121157589-121157639	AG09309	skin:	n/a
31	chr12:121157589-121157639	K562	blood:	n/a
32	chr12:121157589-121157639	NH-A	brain:	n/a
33	chr12:121157589-121157639	BJ	skin:	n/a
34	chr12:121157589-121157639	AG09319	gingival:	n/a
35	chr12:121157589-121157639	CMK	blood:	n/a
36	chr12:121157589-121157639	H1-hESC	embryonic stem cell:	embryo
37	chr12:121157589-121157639	AoSMC	blood vessel:	n/a
38	chr12:121157589-121157639	HCM	heart:	n/a
39	chr12:121157589-121157639	HUVEC	blood vessel:	n/a
40	chr12:121157589-121157639	NT2-D1	testis:	n/a
41	chr12:121157589-121157639	HAEpiC	amniotic membrane:	n/a
42	chr12:121157589-121157639	RPTEC	kidney:	n/a
43	chr12:121157589-121157639	HepG2	liver:	n/a
44	chr12:121157589-121157639	T-47D	breast:	n/a
45	chr12:121157589-121157639	SK-N-MC	brain:	n/a
46	chr12:121157589-121157639	AG04450	lung:	fetal
47	chr12:121157589-121157639	NHDF-neo	bronchial:	n/a
48	chr12:121157589-121157639	MCF10A-Er-Src	breast:	n/a
49	chr12:121157589-121157639	HCT-116	colon:	n/a
50	chr12:121157589-121157639	HRCEpiC	kidney:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121093291..121095008-chr12:121156747..121158862,2	K562	blood:
2	chr12:121092173..121095008-chr12:121157362..121160379,3	K562	blood:
3	chr12:120984201..120985776-chr12:121156791..121158435,2	MCF-7	breast:
4	chr12:121156734..121158293-chr12:121340769..121342837,2	MCF-7	breast:
5	chr12:121123639..121125451-chr12:121157117..121158712,2	MCF-7	breast:
6	chr12:121155674..121159047-chr12:121162083..121163846,4	MCF-7	breast:
7	chr12:121017670..121019248-chr12:121156331..121159030,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4700	TF binding region
MIR4700	CpG island
ENSG00000167272	Chromatin interaction
ENSG00000157782	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000122971	Chromatin interaction
ENSG00000157837	Chromatin interaction
ENSG00000022840	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10849779	0.93[ASN][1000 genomes]
rs11065208	0.87[ASN][1000 genomes]
rs11065211	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065212	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065230	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829037	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296423	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1803508	0.96[ASN][1000 genomes]
rs4559761	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55644516	0.89[EUR][1000 genomes]
rs59358833	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59904018	0.89[EUR][1000 genomes]
rs61229807	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs695950	0.93[ASN][1000 genomes]
rs7135915	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7303170	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409923	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7956685	0.89[EUR][1000 genomes]
rs7958698	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7964228	0.91[ASN][1000 genomes]
rs7972583	0.97[ASN][1000 genomes]
rs7973907	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949443	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121149600-121159000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121149800-121162800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121150000-121163000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:121150400-121157800	Strong transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:121150400-121161600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:121150400-121163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:121150600-121158400	Strong transcription	NH-A	brain
8	chr12:121150800-121162400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:121150800-121162400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:121151000-121158200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:121151000-121158200	Strong transcription	HMEC	breast
12	chr12:121151000-121161200	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr12:121151000-121161800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:121151000-121161800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:121151000-121162200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:121151000-121163000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:121151200-121157800	Strong transcription	NHLF	lung
18	chr12:121151200-121158000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:121151200-121158000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:121151200-121158000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:121151200-121158200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:121151200-121158200	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr12:121151200-121158200	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:121151200-121158600	Strong transcription	NHEK	skin
25	chr12:121151200-121160400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
26	chr12:121151200-121160600	Strong transcription	Lung	lung
27	chr12:121151200-121161200	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr12:121151200-121161200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:121151200-121161200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:121151200-121161200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr12:121151200-121161200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr12:121151200-121161200	Strong transcription	Hela-S3	cervix
33	chr12:121151200-121161200	Strong transcription	HUVEC	blood vessel
34	chr12:121151200-121161400	Strong transcription	Fetal Muscle Leg	muscle
35	chr12:121151200-121161600	Strong transcription	Ovary	ovary
36	chr12:121151200-121161800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:121151200-121162000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:121151200-121162200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:121151200-121162200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:121151200-121162200	Strong transcription	Brain Anterior Caudate	brain
41	chr12:121151200-121162200	Strong transcription	Fetal Thymus	thymus
42	chr12:121151200-121162400	Strong transcription	Fetal Muscle Trunk	muscle
43	chr12:121151200-121162600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:121151200-121162600	Strong transcription	Fetal Stomach	stomach
45	chr12:121151200-121163000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:121151400-121163600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:121151600-121159000	Weak transcription	Right Atrium	heart
48	chr12:121151800-121157800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr12:121151800-121158000	Strong transcription	A549	lung
50	chr12:121151800-121161200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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