Variant report

Variant	rs6728200
Chromosome Location	chr2:190445687-190445688
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	chr2:190445360-190445892	GM12878	blood:	n/a	n/a
2	FOXP2	chr2:190445528-190445844	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr2:190444967-190446333	H1-neurons	neurons:	n/a	n/a
4	CEBPD	chr2:190445324-190445974	HepG2	liver:	n/a	n/a
5	FOXA1	chr2:190445489-190445780	T-47D	breast:	n/a	n/a
6	POLR2A	chr2:190445311-190445898	HUVEC	blood vessel:	n/a	n/a
7	TAL1	chr2:190445583-190447295	K562	blood:	n/a	chr2:190446828-190446846
8	HMGN3	chr2:190445150-190446945	K562	blood:	n/a	n/a
9	MAX	chr2:190445604-190445902	HepG2	liver:	n/a	n/a
10	TCF12	chr2:190445408-190446118	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr2:190445431-190446160	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr2:190445402-190446008	SK-N-SH	brain:	n/a	n/a
13	JUND	chr2:190445371-190446031	A549	lung:	n/a	chr2:190445807-190445816 chr2:190445760-190445774 chr2:190445854-190445863
14	MXI1	chr2:190445065-190445935	HepG2	liver:	n/a	n/a
15	ZNF143	chr2:190445576-190445765	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr2:190445399-190445873	HepG2	liver:	n/a	n/a
17	MAZ	chr2:190445334-190446085	IMR90	lung:	n/a	n/a
18	MAX	chr2:190445507-190445767	K562	blood:	n/a	n/a
19	TAF1	chr2:190445325-190445896	K562	blood:	n/a	n/a
20	ZBTB7A	chr2:190445402-190445778	HepG2	liver:	n/a	n/a
21	HEY1	chr2:190444961-190446042	K562	blood:	n/a	chr2:190445659-190445674 chr2:190445648-190445663
22	SIN3AK20	chr2:190445491-190445958	K562	blood:	n/a	n/a
23	CEBPD	chr2:190445330-190445905	HepG2	liver:	n/a	n/a
24	MAX	chr2:190445424-190445919	A549	lung:	n/a	n/a
25	ELF1	chr2:190445527-190445964	K562	blood:	n/a	n/a
26	MYC	chr2:190444336-190445935	K562	blood:	n/a	n/a
27	YY1	chr2:190445495-190446009	ECC-1	luminal epithelium:	n/a	chr2:190445850-190445864
28	MAX	chr2:190445533-190446022	SK-N-SH	brain:	n/a	n/a
29	TBP	chr2:190444906-190447343	K562	blood:	n/a	n/a
30	POLR2A	chr2:190445150-190445979	SK-N-MC	brain:	n/a	n/a
31	CTBP2	chr2:190444952-190446826	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr2:190445338-190445832	HepG2	liver:	n/a	n/a
33	HEY1	chr2:190445207-190446352	HepG2	liver:	n/a	chr2:190445659-190445674 chr2:190445648-190445663
34	POLR2A	chr2:190445261-190445799	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:190445390-190445842	Gliobla	brain:	n/a	n/a
36	HEY1	chr2:190444966-190445882	HepG2	liver:	n/a	chr2:190445659-190445674 chr2:190445648-190445663
37	MAX	chr2:190444245-190445929	NB4	blood:	n/a	n/a
38	JUND	chr2:190444417-190445836	K562	blood:	n/a	chr2:190445807-190445816 chr2:190444486-190444495 chr2:190445760-190445774
39	PML	chr2:190444985-190445980	K562	blood:	n/a	n/a
40	GATA2	chr2:190444552-190445924	SH-SY5Y	brain:	n/a	n/a
41	MYC	chr2:190445034-190446078	K562	blood:	n/a	n/a
42	E2F6	chr2:190445475-190445758	K562	blood:	n/a	n/a
43	MYC	chr2:190444294-190445924	NB4	blood:	n/a	n/a
44	MBD4	chr2:190445539-190446352	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:190445377-190445977	A549	lung:	n/a	n/a
46	CCNT2	chr2:190445363-190446970	K562	blood:	n/a	chr2:190446828-190446848 chr2:190446371-190446380
47	MYBL2	chr2:190444837-190445936	HepG2	liver:	n/a	n/a
48	CREB1	chr2:190445019-190446109	K562	blood:	n/a	n/a
49	EP300	chr2:190445170-190446107	ECC-1	luminal epithelium:	n/a	chr2:190445946-190445955
50	POLR2A	chr2:190445099-190446029	HUVEC	blood vessel:	n/a	n/a

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

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

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

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

rs_ID	r²[population]
rs5742929	1.00[ASN][1000 genomes]

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190441600-190446400	Active TSS	Rectal Smooth Muscle	rectum
2	chr2:190441800-190446000	Active TSS	Stomach Smooth Muscle	stomach
3	chr2:190442200-190446400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:190442200-190446400	Active TSS	Aorta	Aorta
5	chr2:190442200-190446600	Active TSS	Right Atrium	heart
6	chr2:190442600-190445800	Active TSS	Fetal Intestine Small	intestine
7	chr2:190443200-190446000	Active TSS	Fetal Muscle Leg	muscle
8	chr2:190443200-190446200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:190443200-190446200	Active TSS	Duodenum Mucosa	Duodenum
10	chr2:190443200-190446400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:190443200-190446600	Active TSS	Brain Anterior Caudate	brain
12	chr2:190443200-190446600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr2:190443600-190446200	Active TSS	Fetal Intestine Large	intestine
14	chr2:190443600-190446400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:190443600-190446400	Active TSS	Ovary	ovary
16	chr2:190443800-190446000	Active TSS	Placenta	Placenta
17	chr2:190444000-190446400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr2:190444000-190446600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr2:190444200-190445800	Active TSS	Brain Hippocampus Middle	brain
20	chr2:190444200-190446200	Active TSS	Brain Angular Gyrus	brain
21	chr2:190444200-190446200	Active TSS	Fetal Stomach	stomach
22	chr2:190444200-190446600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr2:190444400-190446000	Active TSS	Liver	Liver
24	chr2:190444400-190446000	Active TSS	Fetal Brain Female	brain
25	chr2:190444400-190446200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr2:190444400-190446200	Active TSS	Colonic Mucosa	Colon
27	chr2:190444400-190446200	Active TSS	Fetal Muscle Trunk	muscle
28	chr2:190444400-190446200	Active TSS	Gastric	stomach
29	chr2:190444400-190446200	Active TSS	Left Ventricle	heart
30	chr2:190444400-190446200	Active TSS	Lung	lung
31	chr2:190444400-190446200	Active TSS	Pancreas	Pancrea
32	chr2:190444400-190446200	Active TSS	Right Ventricle	heart
33	chr2:190444400-190446200	Active TSS	Stomach Mucosa	stomach
34	chr2:190444400-190446400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr2:190444400-190446400	Active TSS	Brain Substantia Nigra	brain
36	chr2:190444400-190446600	Active TSS	Psoas Muscle	Psoas
37	chr2:190444400-190446800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr2:190444600-190446000	Active TSS	Monocytes-CD14+_RO01746	blood
39	chr2:190444600-190446200	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr2:190444600-190446200	Active TSS	Small Intestine	intestine
41	chr2:190444600-190446400	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr2:190444600-190446400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:190444600-190446400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr2:190444600-190446400	Active TSS	HSMMtube	muscle
45	chr2:190444800-190445800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:190444800-190446000	Active TSS	Spleen	Spleen
47	chr2:190444800-190446200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:190444800-190446200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr2:190444800-190446200	Active TSS	Esophagus	oesophagus
50	chr2:190444800-190446200	Active TSS	Fetal Lung	lung

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