Variant report

Variant	rs3217783
Chromosome Location	chr12:4382599-4382600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:4378383-4393977	GM12878	blood:	n/a	n/a
2	TBP	chr12:4380736-4383186	GM12878	blood:	n/a	n/a
3	TBL1XR1	chr12:4381688-4383061	K562	blood:	n/a	n/a
4	POLR2A	chr12:4382575-4386671	PFSK-1	brain:	n/a	n/a
5	RUNX3	chr12:4382486-4384196	GM12878	blood:	n/a	n/a
6	PML	chr12:4379812-4384189	GM12878	blood:	n/a	n/a
7	POLR2A	chr12:4377585-4384549	GM12878	blood:	n/a	n/a
8	CHD2	chr12:4377735-4384431	GM12878	blood:	n/a	chr12:4379156-4379166 chr12:4381510-4381520 chr12:4384238-4384248 chr12:4378087-4378097 chr12:4378377-4378387
9	CEBPB	chr12:4381504-4383339	K562	blood:	n/a	n/a
10	POLR2A	chr12:4379868-4384064	NB4	blood:	n/a	n/a
11	POU2F2	chr12:4382483-4383459	GM12891	blood:	n/a	chr12:4382723-4382735
12	POLR2A	chr12:4382457-4383630	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr12:4379822-4384193	GM12892	blood:	n/a	n/a
14	POLR2A	chr12:4379789-4384262	H1-neurons	neurons:	n/a	n/a
15	MAZ	chr12:4382485-4385200	IMR90	lung:	n/a	chr12:4385045-4385055 chr12:4383629-4383639 chr12:4383593-4383603
16	SIN3A	chr12:4381508-4385599	H1-hESC	embryonic stem cell:	n/a	chr12:4382103-4382116
17	MAX	chr12:4379831-4384162	GM12878	blood:	n/a	chr12:4380223-4380232 chr12:4381772-4381783 chr12:4382312-4382322 chr12:4381771-4381786 chr12:4382137-4382147 chr12:4381771-4381781 chr12:4383629-4383639 chr12:4383593-4383603 chr12:4381772-4381783
18	EP300	chr12:4381510-4383094	K562	blood:	n/a	chr12:4382138-4382154
19	TAL1	chr12:4380764-4383162	K562	blood:	n/a	chr12:4382759-4382768
20	POLR2A	chr12:4377522-4393821	GM19099	blood:	n/a	n/a
21	RELA	chr12:4379890-4384168	GM12891	blood:	n/a	n/a
22	E2F6	chr12:4381162-4383893	H1-hESC	embryonic stem cell:	n/a	chr12:4383683-4383694 chr12:4381849-4381856 chr12:4381849-4381856 chr12:4383493-4383502 chr12:4383527-4383541 chr12:4381848-4381857 chr12:4381849-4381856 chr12:4383722-4383732
23	CHD1	chr12:4378508-4385725	GM12878	blood:	n/a	chr12:4379156-4379166 chr12:4381510-4381520 chr12:4384238-4384248
24	MAZ	chr12:4377873-4383375	GM12878	blood:	n/a	chr12:4380223-4380232 chr12:4381772-4381783 chr12:4382312-4382322 chr12:4378571-4378580 chr12:4381771-4381786 chr12:4382137-4382147 chr12:4381772-4381783
25	POLR2A	chr12:4377442-4388337	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:4382586-4383962	HL-60	blood:	n/a	n/a
27	RELA	chr12:4380594-4383307	GM19099	blood:	n/a	n/a
28	POLR2A	chr12:4377597-4393888	GM12891	blood:	n/a	n/a
29	MAX	chr12:4380757-4384209	NB4	blood:	n/a	chr12:4381772-4381783 chr12:4382312-4382322 chr12:4381771-4381786 chr12:4382137-4382147 chr12:4381771-4381781 chr12:4383629-4383639 chr12:4383593-4383603 chr12:4381772-4381783
30	TCF7L2	chr12:4382087-4383004	HEK293	kidney:	n/a	n/a
31	TBP	chr12:4382438-4383399	K562	blood:	n/a	n/a
32	RELA	chr12:4381289-4383451	GM18951	blood:	n/a	n/a
33	SIN3AK20	chr12:4382587-4383167	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr12:4379810-4384064	K562	blood:	n/a	n/a
35	MAZ	chr12:4378360-4385121	K562	blood:	n/a	chr12:4385045-4385055 chr12:4380223-4380232 chr12:4381772-4381783 chr12:4382312-4382322 chr12:4378571-4378580 chr12:4381771-4381786 chr12:4382137-4382147 chr12:4383629-4383639 chr12:4383593-4383603 chr12:4381772-4381783
36	EP300	chr12:4380689-4383345	GM12878	blood:	n/a	chr12:4381243-4381259 chr12:4383139-4383153 chr12:4381471-4381487 chr12:4383189-4383198 chr12:4382138-4382154
37	RCOR1	chr12:4380549-4384086	K562	blood:	n/a	n/a
38	MYC	chr12:4380846-4384138	K562	blood:	n/a	chr12:4381772-4381783 chr12:4382312-4382322 chr12:4381771-4381786 chr12:4382137-4382147 chr12:4381771-4381781 chr12:4383629-4383639 chr12:4383593-4383603 chr12:4381772-4381783
39	IRF1	chr12:4382372-4383263	K562	blood:	n/a	n/a
40	MYC	chr12:4379542-4384191	NB4	blood:	n/a	chr12:4380223-4380232 chr12:4381772-4381783 chr12:4382312-4382322 chr12:4381771-4381786 chr12:4382137-4382147 chr12:4381771-4381781 chr12:4383629-4383639 chr12:4383593-4383603 chr12:4381772-4381783
41	ZNF263	chr12:4381385-4384157	HEK293-T-REx	kidney:	n/a	chr12:4383098-4383107 chr12:4383883-4383892 chr12:4382932-4382953 chr12:4381702-4381711
42	POLR2A	chr12:4382591-4383629	H1-hESC	embryonic stem cell:	n/a	n/a
43	RFX5	chr12:4379995-4383066	H1-hESC	embryonic stem cell:	n/a	chr12:4381227-4381242
44	POLR2A	chr12:4381315-4384637	GM12892	blood:	n/a	n/a
45	TEAD4	chr12:4382468-4382941	H1-hESC	embryonic stem cell:	n/a	n/a
46	SP1	chr12:4382439-4383113	H1-hESC	embryonic stem cell:	n/a	chr12:4382712-4382726 chr12:4382796-4382807
47	POLR2A	chr12:4381323-4384202	GM12892	blood:	n/a	n/a
48	POLR2A	chr12:4379882-4385426	GM18505	blood:	n/a	n/a
49	POLR2A	chr12:4380800-4383413	GM10847	blood:	n/a	n/a
50	MAX	chr12:4381331-4383326	H1-hESC	embryonic stem cell:	n/a	chr12:4381772-4381783 chr12:4382312-4382322 chr12:4381771-4381786 chr12:4382137-4382147 chr12:4381771-4381781 chr12:4381772-4381783

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:3978947..3981875-chr12:4381356..4383947,2	K562	blood:
2	chr12:4382442..4383286-chr14:59950814..59951572,2	NB4	blood:

Variant related genes	Relation type
CCND2	TF binding region
ENSG00000256862	Chromatin interaction
ENSG00000126790	Chromatin interaction
ENSG00000050130	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3217891	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1050474	chr12:4226760-4389238	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	nsv541360	chr12:4338851-4389238	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv541361	chr12:4362258-4413849	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4377600-4383200	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr12:4377600-4386000	Active TSS	Aorta	Aorta
3	chr12:4377600-4386200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:4377800-4385400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr12:4378200-4385000	Active TSS	Primary T cells from cord blood	blood
6	chr12:4378200-4385400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:4378200-4385600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr12:4378200-4385800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:4378600-4383400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
10	chr12:4378600-4384200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr12:4378800-4383000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:4378800-4383400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:4378800-4384000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr12:4379000-4385000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr12:4379200-4382800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr12:4379200-4385200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:4379600-4385200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:4380000-4383800	Flanking Bivalent TSS/Enh	Dnd41	blood
19	chr12:4381000-4382800	Enhancers	Liver	Liver
20	chr12:4381000-4383000	Active TSS	Brain Germinal Matrix	brain
21	chr12:4381000-4385600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:4381200-4383000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:4381400-4382600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr12:4381400-4382600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:4381400-4382600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
26	chr12:4381400-4382600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
27	chr12:4381400-4382600	Flanking Active TSS	Colonic Mucosa	Colon
28	chr12:4381400-4382600	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr12:4381400-4382600	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr12:4381400-4382600	Flanking Active TSS	Fetal Intestine Small	intestine
31	chr12:4381400-4382600	Flanking Active TSS	Fetal Stomach	stomach
32	chr12:4381400-4382600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr12:4381400-4382600	Flanking Active TSS	GM12878-XiMat	blood
34	chr12:4381400-4382800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:4381400-4382800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr12:4381400-4382800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:4381400-4382800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr12:4381400-4382800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr12:4381400-4382800	Enhancers	Spleen	Spleen
40	chr12:4381400-4382800	Flanking Active TSS	HMEC	breast
41	chr12:4381400-4383000	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr12:4381400-4383400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr12:4381400-4383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:4381400-4383800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:4381400-4384000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
46	chr12:4381400-4384200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr12:4381400-4384600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr12:4381600-4382600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:4381600-4382600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr12:4381600-4382600	Flanking Active TSS	Brain Anterior Caudate	brain

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