Variant report

Variant	rs16831699
Chromosome Location	chr2:190446656-190446657
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	MAFF	chr2:190446628-190446872	K562	blood:	n/a	n/a
2	CEBPB	chr2:190446508-190446996	K562	blood:	n/a	n/a
3	STAT5A	chr2:190446477-190447123	K562	blood:	n/a	n/a
4	IRF1	chr2:190446465-190447740	K562	blood:	n/a	chr2:190447593-190447606 chr2:190447595-190447606 chr2:190447587-190447600 chr2:190447589-190447603 chr2:190447586-190447603 chr2:190447595-190447605 chr2:190447589-190447599 chr2:190447595-190447609 chr2:190447591-190447605 chr2:190447593-190447606 chr2:190447587-190447607
5	TAF7	chr2:190446624-190446789	K562	blood:	n/a	n/a
6	TAL1	chr2:190445583-190447295	K562	blood:	n/a	chr2:190446828-190446846
7	HMGN3	chr2:190445150-190446945	K562	blood:	n/a	n/a
8	RAD21	chr2:190446152-190446750	H1-hESC	embryonic stem cell:	n/a	n/a
9	TEAD4	chr2:190446031-190446791	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr2:190446616-190447065	K562	blood:	n/a	n/a
11	EP300	chr2:190446535-190447438	K562	blood:	n/a	chr2:190447363-190447377 chr2:190446895-190446909
12	CEBPD	chr2:190446458-190447127	K562	blood:	n/a	n/a
13	CEBPB	chr2:190446380-190446764	H1-hESC	embryonic stem cell:	n/a	n/a
14	TBP	chr2:190444906-190447343	K562	blood:	n/a	n/a
15	CTBP2	chr2:190444952-190446826	H1-hESC	embryonic stem cell:	n/a	n/a
16	HCFC1	chr2:190446514-190446909	K562	blood:	n/a	n/a
17	TBL1XR1	chr2:190446237-190447099	K562	blood:	n/a	n/a
18	TEAD4	chr2:190446366-190447263	K562	blood:	n/a	n/a
19	MYC	chr2:190446140-190447379	K562	blood:	n/a	chr2:190446376-190446385 chr2:190446372-190446382
20	EP300	chr2:190446006-190447605	K562	blood:	n/a	chr2:190447570-190447584 chr2:190447363-190447377 chr2:190446895-190446909 chr2:190447590-190447604
21	YY1	chr2:190446523-190446945	K562	blood:	n/a	n/a
22	CCNT2	chr2:190445363-190446970	K562	blood:	n/a	chr2:190446828-190446848 chr2:190446371-190446380
23	PML	chr2:190446169-190447123	K562	blood:	n/a	n/a
24	EGR1	chr2:190446620-190446871	K562	blood:	n/a	n/a
25	EP300	chr2:190446555-190447196	GM12878	blood:	n/a	chr2:190446895-190446909
26	ZC3H11A	chr2:190446552-190447164	K562	blood:	n/a	n/a
27	GATA1	chr2:190446548-190447010	PBDEFetal	blood:	n/a	chr2:190446835-190446848 chr2:190446838-190446846 chr2:190446828-190446845
28	GATA2	chr2:190446516-190446982	K562	blood:	n/a	chr2:190446835-190446848 chr2:190446838-190446846 chr2:190446828-190446845
29	POLR2A	chr2:190444982-190447214	K562	blood:	n/a	n/a
30	TBL1XR1	chr2:190446207-190447408	K562	blood:	n/a	n/a
31	BHLHE40	chr2:190446396-190447514	K562	blood:	n/a	n/a
32	ZMIZ1	chr2:190445083-190447504	K562	blood:	n/a	n/a
33	CEBPD	chr2:190446486-190447054	K562	blood:	n/a	n/a
34	TEAD4	chr2:190446008-190447221	K562	blood:	n/a	n/a
35	ZNF143	chr2:190446544-190447283	K562	blood:	n/a	n/a
36	GATA3	chr2:190446268-190446898	T-47D	breast:	n/a	chr2:190446835-190446848 chr2:190446838-190446846 chr2:190446828-190446845
37	MXI1	chr2:190446543-190446995	K562	blood:	n/a	n/a
38	POLR2A	chr2:190444897-190447250	K562	blood:	n/a	n/a
39	NR2F2	chr2:190445997-190447163	K562	blood:	n/a	n/a
40	POLR2A	chr2:190444227-190448816	PBDE	blood:	n/a	n/a
41	GATA1	chr2:190444265-190447639	PBDE	blood:	n/a	chr2:190446835-190446848 chr2:190444336-190444343 chr2:190446838-190446846 chr2:190444485-190444495 chr2:190446828-190446845
42	STAT5A	chr2:190446594-190446986	K562	blood:	n/a	n/a
43	RCOR1	chr2:190444861-190447429	K562	blood:	n/a	n/a
44	POLR2A	chr2:190445009-190447207	K562	blood:	n/a	n/a
45	MAFK	chr2:190446445-190447420	K562	blood:	n/a	chr2:190447332-190447343 chr2:190447332-190447343 chr2:190447327-190447343 chr2:190447331-190447342 chr2:190447322-190447342 chr2:190447330-190447344
46	POLR2A	chr2:190444989-190447536	K562	blood:	n/a	n/a
47	MAX	chr2:190446495-190446953	K562	blood:	n/a	n/a
48	PML	chr2:190446374-190447082	K562	blood:	n/a	n/a
49	NR2F2	chr2:190446576-190447021	K562	blood:	n/a	n/a
50	CTCF	chr2:190446638-190446804	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190305660..190307734-chr2:190445889..190448100,2	K562	blood:
2	chr2:190443338..190447714-chr2:190524367..190527732,5	K562	blood:

Variant related genes	Relation type
SLC40A1	TF binding region
ENSG00000138381	Chromatin interaction
ENSG00000115368	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4666782	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers 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	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190444400-190446800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr2:190444800-190446800	Active TSS	Fetal Kidney	kidney
3	chr2:190445000-190447000	Active TSS	K562	blood
4	chr2:190445400-190446800	Active TSS	Brain Cingulate Gyrus	brain
5	chr2:190445400-190447000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr2:190446000-190446800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr2:190446000-190446800	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr2:190446000-190446800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:190446000-190447000	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr2:190446000-190448200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:190446000-190449400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:190446200-190446800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
13	chr2:190446200-190446800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:190446200-190446800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:190446200-190446800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
16	chr2:190446200-190446800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:190446200-190446800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr2:190446200-190446800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr2:190446200-190446800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr2:190446200-190446800	Flanking Active TSS	Colonic Mucosa	Colon
21	chr2:190446200-190446800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr2:190446200-190446800	Flanking Active TSS	Esophagus	oesophagus
23	chr2:190446200-190446800	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr2:190446200-190446800	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr2:190446200-190446800	Enhancers	Gastric	stomach
26	chr2:190446200-190446800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:190446200-190446800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr2:190446200-190447000	Flanking Active TSS	Fetal Lung	lung
29	chr2:190446200-190447000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr2:190446200-190447000	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr2:190446200-190447400	Enhancers	Small Intestine	intestine
32	chr2:190446200-190447600	Flanking Active TSS	Dnd41	blood
33	chr2:190446400-190446800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:190446400-190446800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr2:190446400-190446800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:190446400-190446800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:190446400-190446800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr2:190446400-190446800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:190446400-190446800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:190446400-190446800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:190446400-190446800	Bivalent Enhancer	Brain Angular Gyrus	brain
42	chr2:190446400-190446800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:190446400-190446800	Flanking Active TSS	Colon Smooth Muscle	Colon
44	chr2:190446400-190446800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr2:190446400-190446800	Enhancers	Fetal Muscle Trunk	muscle
46	chr2:190446400-190446800	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr2:190446400-190446800	Flanking Active TSS	Ovary	ovary
48	chr2:190446400-190446800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr2:190446400-190446800	Enhancers	HUVEC	blood vessel
50	chr2:190446400-190447000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood

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