Variant report

Variant	rs12034302
Chromosome Location	chr1:150554876-150554877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150554875-150554925	Hela-S3	cervix:	n/a
2	chr1:150554875-150554925	AG09309	skin:	n/a
3	chr1:150554875-150554925	GM12891	blood:	n/a
4	chr1:150554875-150554925	HepG2	liver:	n/a
5	chr1:150554875-150554925	ProgFib	skin:	n/a
6	chr1:150554875-150554925	CMK	blood:	n/a
7	chr1:150554875-150554925	MCF10A-Er-Src	breast:	n/a
8	chr1:150554875-150554925	MCF-7	breast:	n/a
9	chr1:150554875-150554925	HCF	heart:	n/a
10	chr1:150554875-150554925	NT2-D1	testis:	n/a
11	chr1:150554875-150554925	Caco-2	colon:	n/a
12	chr1:150554875-150554925	AoSMC	blood vessel:	n/a
13	chr1:150554875-150554925	HL-60	blood:	n/a
14	chr1:150554875-150554925	HMEC	breast:	n/a
15	chr1:150554875-150554925	Hepatocyte	liver:	n/a
16	chr1:150554875-150554925	BE2_C	brain:	n/a
17	chr1:150554875-150554925	K562	blood:	n/a
18	chr1:150554875-150554925	HNPCEpiC	eye:	n/a
19	chr1:150554875-150554925	BJ	skin:	n/a
20	chr1:150554875-150554925	GM06990	blood:	n/a
21	chr1:150554875-150554925	AG09319	gingival:	n/a
22	chr1:150554875-150554925	HEK293	kidney:	embryo
23	chr1:150554875-150554925	HAEpiC	amniotic membrane:	n/a
24	chr1:150554875-150554925	AG04449	skin:	fetal
25	chr1:150554875-150554925	LNCaP	prostate:	n/a
26	chr1:150554875-150554925	RPTEC	kidney:	n/a
27	chr1:150554875-150554925	HCT-116	colon:	n/a
28	chr1:150554875-150554925	ovcar-3	ovarian:	n/a
29	chr1:150554875-150554925	AG10803	skin:	n/a
30	chr1:150554875-150554925	HEEpiC	esophagus:	n/a
31	chr1:150554875-150554925	U87	brain:	n/a
32	chr1:150554875-150554925	GM19239	blood:	n/a
33	chr1:150554875-150554925	PFSK-1	brain:	n/a
34	chr1:150554875-150554925	PrEC	prostate:	n/a
35	chr1:150554875-150554925	SK-N-MC	brain:	n/a
36	chr1:150554875-150554925	PANC-1	pancreas:	n/a
37	chr1:150554875-150554925	NH-A	brain:	n/a
38	chr1:150554875-150554925	HRCEpiC	kidney:	n/a
39	chr1:150554875-150554925	HRE	kidney:	n/a
40	chr1:150554875-150554925	NHBE	bronchial:	n/a
41	chr1:150554875-150554925	HPAEpiC	pulmonary alveolar:	n/a
42	chr1:150554875-150554925	NHDF-neo	bronchial:	n/a
43	chr1:150554875-150554925	SKMC	muscle:	n/a
44	chr1:150554875-150554925	A549	lung:	n/a
45	chr1:150554875-150554925	T-47D	breast:	n/a
46	chr1:150554875-150554925	SAEC	small airway:	n/a
47	chr1:150554875-150554925	GM12878	blood:	n/a
48	chr1:150554875-150554925	SK-N-SH	brain:	n/a
49	chr1:150554875-150554925	ECC-1	luminal epithelium:	n/a
50	chr1:150554875-150554925	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
2	chr1:150548752..150555486-chr1:150599368..150605834,15	MCF-7	breast:
3	chr1:150550164..150555275-chr1:150782862..150788394,7	MCF-7	breast:

No data

Variant related genes	Relation type
MCL1	CpG island
ENSG00000143420	Chromatin interaction
ENSG00000200175	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1053701	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11204665	0.91[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11204674	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11204689	0.93[AMR][1000 genomes]
rs11576175	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs11585460	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12031458	0.93[AMR][1000 genomes]
rs12032445	0.93[AMR][1000 genomes]
rs12036914	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12038403	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.93[AMR][1000 genomes]
rs12042580	0.93[ASN][1000 genomes]
rs12045807	0.92[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16840074	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs28744536	0.86[ASN][1000 genomes]
rs3754207	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes]
rs55890313	0.93[AMR][1000 genomes]
rs60060012	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61820166	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61820168	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61820170	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6587515	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6672667	0.93[CHB][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7517	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7543465	0.91[CEU][hapmap];0.86[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]

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	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv535155	chr1:150535349-150582395	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
3	nsv535156	chr1:150540117-150575941	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv535157	chr1:150552692-150575941	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150553000-150555000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:150553000-150555400	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:150553000-150555600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:150553000-150556000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:150553000-150557000	Weak transcription	Fetal Stomach	stomach
6	chr1:150553000-150557200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:150553000-150559200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:150553000-150560600	Weak transcription	Right Atrium	heart
9	chr1:150553000-150562600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:150553000-150572800	Weak transcription	Thymus	Thymus
11	chr1:150553000-150583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:150553200-150555000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:150553200-150555000	Weak transcription	HepG2	liver
14	chr1:150553200-150555200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:150553200-150555400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:150553200-150555400	Weak transcription	Placenta	Placenta
17	chr1:150553200-150558200	Weak transcription	Right Ventricle	heart
18	chr1:150553200-150564200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr1:150553200-150566000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:150553200-150568400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:150553200-150569400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:150553200-150569400	Weak transcription	Fetal Thymus	thymus
23	chr1:150553200-150572600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:150553200-150572600	Weak transcription	Fetal Brain Female	brain
25	chr1:150553200-150572800	Weak transcription	Brain Angular Gyrus	brain
26	chr1:150553200-150577600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:150553200-150581800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:150553200-150581800	Weak transcription	Dnd41	blood
29	chr1:150553200-150583200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:150553200-150592000	Weak transcription	Fetal Kidney	kidney
31	chr1:150553400-150556400	Weak transcription	Fetal Intestine Small	intestine
32	chr1:150553800-150568000	Weak transcription	HSMM	muscle
33	chr1:150553800-150572600	Weak transcription	Lung	lung
34	chr1:150553800-150576800	Weak transcription	Colon Smooth Muscle	Colon
35	chr1:150554000-150555000	Weak transcription	HSMMtube	muscle
36	chr1:150554000-150555400	Weak transcription	Colonic Mucosa	Colon
37	chr1:150554000-150558400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:150554000-150560400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:150554000-150568400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:150554000-150568600	Weak transcription	Hela-S3	cervix
41	chr1:150554000-150572000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:150554000-150583200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:150554200-150555200	Weak transcription	Gastric	stomach
44	chr1:150554200-150568400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:150554400-150572600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:150554600-150555000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr1:150554600-150555600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:150554800-150555000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:150554800-150555000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:150554800-150555000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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