Variant report

Variant	rs4238015
Chromosome Location	chr12:4427983-4427984
allele	C/T
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	chr12:4427976-4428026	PFSK-1	brain:	n/a
2	chr12:4427976-4428026	HepG2	liver:	n/a
3	chr12:4427976-4428026	CMK	blood:	n/a
4	chr12:4427976-4428026	Jurkat	blood:	n/a
5	chr12:4427976-4428026	A549	lung:	n/a
6	chr12:4427976-4428026	SAEC	small airway:	n/a
7	chr12:4427976-4428026	HL-60	blood:	n/a
8	chr12:4427976-4428026	HNPCEpiC	eye:	n/a
9	chr12:4427976-4428026	BJ	skin:	n/a
10	chr12:4427976-4428026	HCM	heart:	n/a
11	chr12:4427976-4428026	SKMC	muscle:	n/a
12	chr12:4427976-4428026	NHDF-neo	bronchial:	n/a
13	chr12:4427976-4428026	MCF-7	breast:	n/a
14	chr12:4427976-4428026	NH-A	brain:	n/a
15	chr12:4427976-4428026	SK-N-SH_RA	brain:	n/a
16	chr12:4427976-4428026	GM19239	blood:	n/a
17	chr12:4427976-4428026	HIPEpiC	eye:	n/a
18	chr12:4427976-4428026	T-47D	breast:	n/a
19	chr12:4427976-4428026	AG04449	skin:	fetal
20	chr12:4427976-4428026	HRE	kidney:	n/a
21	chr12:4427976-4428026	ovcar-3	ovarian:	n/a
22	chr12:4427976-4428026	ProgFib	skin:	n/a
23	chr12:4427976-4428026	BE2_C	brain:	n/a
24	chr12:4427976-4428026	IMR90	lung:	fetal
25	chr12:4427976-4428026	HPAEpiC	pulmonary alveolar:	n/a
26	chr12:4427976-4428026	K562	blood:	n/a
27	chr12:4427976-4428026	RPTEC	kidney:	n/a
28	chr12:4427976-4428026	AG09319	gingival:	n/a
29	chr12:4427976-4428026	Hela-S3	cervix:	n/a
30	chr12:4427976-4428026	PrEC	prostate:	n/a
31	chr12:4427976-4428026	GM12892	blood:	n/a
32	chr12:4427976-4428026	HEEpiC	esophagus:	n/a
33	chr12:4427976-4428026	NT2-D1	testis:	n/a
34	chr12:4427976-4428026	SK-N-MC	brain:	n/a
35	chr12:4427976-4428026	GM12878	blood:	n/a
36	chr12:4427976-4428026	NB4	blood:	n/a
37	chr12:4427976-4428026	AG10803	skin:	n/a
38	chr12:4427976-4428026	H1-hESC	embryonic stem cell:	embryo
39	chr12:4427976-4428026	HAEpiC	amniotic membrane:	n/a
40	chr12:4427976-4428026	HCT-116	colon:	n/a
41	chr12:4427976-4428026	HMEC	breast:	n/a
42	chr12:4427976-4428026	SK-N-SH	brain:	n/a
43	chr12:4427976-4428026	HCPEpiC	choroid plexus:	n/a
44	chr12:4427976-4428026	HRPEpiC	eye:	n/a
45	chr12:4427976-4428026	GM12891	blood:	n/a
46	chr12:4427976-4428026	Hepatocyte	liver:	n/a
47	chr12:4427976-4428026	AoSMC	blood vessel:	n/a
48	chr12:4427976-4428026	PANC-1	pancreas:	n/a
49	chr12:4427976-4428026	NHBE	bronchial:	n/a
50	chr12:4427976-4428026	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr12:4426548..4433577-chr12:4433933..4442534,18	MCF-7	breast:
2	chr12:4427023..4428754-chr12:4432349..4434008,2	MCF-7	breast:
3	chr12:4418659..4420968-chr12:4425809..4428758,2	K562	blood:

No data

Variant related genes	Relation type
C12orf5	CpG island
ENSG00000213970	Chromatin interaction
ENSG00000078237	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10450716	1.00[CEU][hapmap]
rs10774217	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10849031	1.00[CEU][hapmap]
rs10849033	1.00[CEU][hapmap]
rs11063088	1.00[CEU][hapmap]
rs11829926	1.00[CEU][hapmap]
rs12304233	1.00[CEU][hapmap]
rs17782421	1.00[CEU][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	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv832317	chr12:4315298-4435615	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv468985	chr12:4423612-4473329	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv557122	chr12:4423612-4473329	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4413200-4429200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr12:4413200-4429800	Weak transcription	Spleen	Spleen
3	chr12:4414800-4429400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:4415000-4429400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:4415200-4429600	Weak transcription	Aorta	Aorta
6	chr12:4416200-4429400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr12:4416400-4429400	Weak transcription	Primary B cells from cord blood	blood
8	chr12:4416400-4429400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:4417000-4429600	Weak transcription	Esophagus	oesophagus
10	chr12:4417400-4429400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:4417400-4429400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:4417400-4429600	Weak transcription	Pancreas	Pancrea
13	chr12:4417400-4429600	Weak transcription	HSMM	muscle
14	chr12:4417600-4429400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:4417600-4429400	Weak transcription	Adipose Nuclei	Adipose
16	chr12:4417600-4429400	Weak transcription	Brain Angular Gyrus	brain
17	chr12:4417600-4429400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:4417600-4429600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:4417800-4429400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr12:4417800-4429400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:4417800-4429600	Weak transcription	Fetal Thymus	thymus
22	chr12:4417800-4429600	Weak transcription	Small Intestine	intestine
23	chr12:4418000-4429400	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:4418000-4429400	Weak transcription	Fetal Intestine Large	intestine
25	chr12:4418000-4429400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:4418200-4428800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:4418200-4429600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:4418400-4429400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr12:4418400-4429400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:4418600-4429400	Weak transcription	HMEC	breast
31	chr12:4418600-4429600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:4418600-4429600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:4418800-4429400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:4418800-4429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:4419000-4429600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:4419200-4429400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:4419200-4429400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:4419200-4429600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:4419400-4428800	Weak transcription	Placenta	Placenta
40	chr12:4419400-4429400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:4419400-4429400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:4419400-4429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:4420000-4429400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:4420200-4429400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:4420200-4429400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr12:4420600-4429400	Weak transcription	Fetal Brain Female	brain
47	chr12:4420800-4429400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:4421000-4429600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr12:4421200-4429400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:4421200-4429600	Weak transcription	Fetal Muscle Trunk	muscle

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