Variant report

Variant	rs6721812
Chromosome Location	chr2:189158389-189158390
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	TCF12	chr2:189158096-189158908	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr2:189158223-189158830	ECC-1	luminal epithelium:	n/a	n/a
3	BCL3	chr2:189155922-189158712	A549	lung:	n/a	chr2:189157703-189157716 chr2:189157243-189157252 chr2:189158254-189158263 chr2:189157574-189157583 chr2:189157571-189157580
4	NFIC	chr2:189156968-189159018	ECC-1	luminal epithelium:	n/a	chr2:189158527-189158543 chr2:189158526-189158543 chr2:189158525-189158542
5	SIN3AK20	chr2:189158244-189158717	PFSK-1	brain:	n/a	n/a
6	MYC	chr2:189157202-189158477	MCF10A-Er-Src	breast:	n/a	chr2:189157243-189157253
7	REST	chr2:189158260-189158649	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr2:189155967-189158844	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr2:189155830-189159188	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:189155955-189158565	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr2:189158290-189158537	ECC-1	luminal epithelium:	n/a	n/a
12	ZBTB7A	chr2:189158302-189158855	ECC-1	luminal epithelium:	n/a	n/a
13	RAD21	chr2:189155915-189159055	IMR90	lung:	n/a	chr2:189157053-189157062 chr2:189157634-189157648
14	CHD1	chr2:189156501-189161129	H1-hESC	embryonic stem cell:	n/a	n/a
15	GATA3	chr2:189158135-189159361	SK-N-SH	brain:	n/a	chr2:189158773-189158783 chr2:189158225-189158238 chr2:189158770-189158786 chr2:189158774-189158783
16	TCF7L2	chr2:189157273-189159132	HEK293	kidney:	n/a	chr2:189158847-189158857
17	STAT3	chr2:189158376-189158576	MCF10A-Er-Src	breast:	n/a	n/a
18	EP300	chr2:189156202-189158846	ECC-1	luminal epithelium:	n/a	chr2:189157240-189157256 chr2:189158507-189158521
19	SMC3	chr2:189155238-189159444	SK-N-SH	brain:	n/a	chr2:189157006-189157013
20	GATA3	chr2:189158163-189159250	SK-N-SH	brain:	n/a	chr2:189158773-189158783 chr2:189158225-189158238 chr2:189158770-189158786 chr2:189158774-189158783
21	FOS	chr2:189158266-189158519	MCF10A-Er-Src	breast:	n/a	n/a
22	TBP	chr2:189155902-189159014	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3AK20	chr2:189158171-189158769	SK-N-SH	brain:	n/a	n/a
24	NFIC	chr2:189158188-189158847	SK-N-SH	brain:	n/a	chr2:189158527-189158543 chr2:189158526-189158543 chr2:189158525-189158542
25	POLR2A	chr2:189158219-189158717	HCT-116	colon:	n/a	n/a
26	STAT3	chr2:189158278-189158454	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr2:189158286-189158748	HUVEC	blood vessel:	n/a	n/a
28	RAD21	chr2:189155121-189159652	SK-N-SH	brain:	n/a	chr2:189157053-189157062 chr2:189157634-189157648
29	POLR2A	chr2:189156081-189159271	K562	blood:	n/a	n/a
30	TCF7L2	chr2:189158184-189159471	PANC-1	pancreas:	n/a	chr2:189158847-189158857
31	TEAD4	chr2:189158192-189158773	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr2:189158155-189158942	PANC-1	pancreas:	n/a	n/a
33	REST	chr2:189155893-189158777	A549	lung:	n/a	chr2:189156995-189157004
34	POLR2A	chr2:189158332-189158453	A549	lung:	n/a	n/a
35	REST	chr2:189158244-189158615	ECC-1	luminal epithelium:	n/a	n/a
36	EP300	chr2:189158229-189158662	SK-N-SH_RA	brain:	n/a	chr2:189158507-189158521
37	MXI1	chr2:189155279-189161412	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr2:189158291-189158962	SK-N-SH	brain:	n/a	n/a
39	YY1	chr2:189158328-189158602	HCT-116	colon:	n/a	n/a
40	PBX3	chr2:189158249-189158777	SK-N-SH	brain:	n/a	n/a
41	REST	chr2:189158252-189158697	ECC-1	luminal epithelium:	n/a	n/a
42	SIN3A	chr2:189155875-189159442	H1-hESC	embryonic stem cell:	n/a	chr2:189156997-189157005
43	REST	chr2:189158299-189158673	PFSK-1	brain:	n/a	n/a
44	NFIC	chr2:189158123-189158924	ECC-1	luminal epithelium:	n/a	chr2:189158527-189158543 chr2:189158526-189158543 chr2:189158525-189158542
45	MXI1	chr2:189155585-189159113	IMR90	lung:	n/a	n/a
46	POLR2A	chr2:189155713-189158935	PANC-1	pancreas:	n/a	n/a
47	TAF1	chr2:189155942-189158854	A549	lung:	n/a	n/a
48	FOSL2	chr2:189157835-189158708	A549	lung:	n/a	n/a
49	POLR2A	chr2:189155665-189158934	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr2:189155767-189159411	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189148121..189153367-chr2:189154784..189162424,9	K562	blood:
2	chr2:189155055..189158409-chr2:189159948..189163832,8	K562	blood:

Variant related genes	Relation type
MIR561	TF binding region
GULP1	TF binding region
ENSG00000231689	Chromatin interaction
ENSG00000207951	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10168173	1.00[EUR][1000 genomes]
rs10497688	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11678729	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs13393870	1.00[EUR][1000 genomes]
rs13394334	1.00[EUR][1000 genomes]
rs13430185	1.00[EUR][1000 genomes]
rs13430412	1.00[EUR][1000 genomes]
rs16829836	1.00[EUR][1000 genomes]
rs16829866	1.00[EUR][1000 genomes]
rs16829915	1.00[EUR][1000 genomes]
rs16829922	0.81[ASW][hapmap];0.89[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs56787383	1.00[EUR][1000 genomes]
rs58718952	1.00[EUR][1000 genomes]
rs58765845	1.00[EUR][1000 genomes]
rs59058494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59329932	1.00[EUR][1000 genomes]
rs60483729	1.00[EUR][1000 genomes]
rs60885306	1.00[EUR][1000 genomes]
rs61163899	1.00[EUR][1000 genomes]
rs6705443	1.00[EUR][1000 genomes]
rs6709650	1.00[EUR][1000 genomes]
rs6716922	1.00[EUR][1000 genomes]
rs6739581	0.91[AFR][1000 genomes]
rs6757707	1.00[EUR][1000 genomes]
rs72905551	0.81[AFR][1000 genomes]
rs73036471	1.00[EUR][1000 genomes]
rs73036479	1.00[EUR][1000 genomes]
rs73036496	1.00[EUR][1000 genomes]
rs73039667	1.00[EUR][1000 genomes]
rs73039680	1.00[EUR][1000 genomes]
rs73039697	1.00[EUR][1000 genomes]
rs73039700	1.00[EUR][1000 genomes]
rs73040411	1.00[EUR][1000 genomes]
rs73040428	1.00[EUR][1000 genomes]
rs73040439	1.00[EUR][1000 genomes]
rs73040442	1.00[EUR][1000 genomes]
rs73040450	1.00[EUR][1000 genomes]
rs73040454	1.00[EUR][1000 genomes]
rs73041610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041636	1.00[EUR][1000 genomes]
rs73041644	1.00[EUR][1000 genomes]
rs73041648	1.00[EUR][1000 genomes]
rs73041649	1.00[EUR][1000 genomes]
rs7577096	1.00[EUR][1000 genomes]
rs7586703	1.00[EUR][1000 genomes]
rs7588114	1.00[EUR][1000 genomes]
rs7592433	1.00[EUR][1000 genomes]
rs7592539	1.00[EUR][1000 genomes]
rs7596417	1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7597930	1.00[EUR][1000 genomes]
rs7598380	1.00[EUR][1000 genomes]
rs7599101	1.00[EUR][1000 genomes]
rs9653310	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189155200-189161800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:189155400-189158400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:189155400-189160800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:189155400-189161000	Active TSS	Aorta	Aorta
5	chr2:189155400-189161200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:189155400-189161200	Active TSS	K562	blood
7	chr2:189155400-189161600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:189155600-189158600	Active TSS	Fetal Brain Female	brain
9	chr2:189155600-189158600	Active TSS	NHLF	lung
10	chr2:189155600-189161200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr2:189155600-189161600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:189155600-189161800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:189155800-189158400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:189155800-189158400	Active TSS	Placenta Amnion	Placenta Amnion
15	chr2:189155800-189158800	Active TSS	Brain Anterior Caudate	brain
16	chr2:189155800-189159000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:189155800-189159200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:189155800-189159200	Active TSS	Ovary	ovary
19	chr2:189155800-189159200	Active TSS	Psoas Muscle	Psoas
20	chr2:189155800-189159400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:189155800-189159400	Active TSS	Fetal Intestine Small	intestine
22	chr2:189155800-189159400	Active TSS	Right Atrium	heart
23	chr2:189155800-189159800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr2:189155800-189160000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:189155800-189160200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr2:189155800-189160200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:189155800-189160200	Active TSS	Fetal Intestine Large	intestine
28	chr2:189155800-189161200	Active TSS	Placenta	Placenta
29	chr2:189155800-189161200	Active TSS	A549	lung
30	chr2:189155800-189161400	Active TSS	H1 Cell Line	embryonic stem cell
31	chr2:189156000-189158400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:189156000-189158800	Active TSS	Rectal Smooth Muscle	rectum
33	chr2:189156000-189158800	Active TSS	NHDF-Ad	bronchial
34	chr2:189156000-189159000	Active TSS	Esophagus	oesophagus
35	chr2:189156000-189159000	Active TSS	Fetal Kidney	kidney
36	chr2:189156000-189159000	Active TSS	Fetal Muscle Trunk	muscle
37	chr2:189156000-189159000	Active TSS	Right Ventricle	heart
38	chr2:189156000-189159000	Active TSS	Stomach Mucosa	stomach
39	chr2:189156000-189159200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:189156000-189159200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:189156000-189159200	Active TSS	Colon Smooth Muscle	Colon
42	chr2:189156000-189159600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:189156000-189159600	Active TSS	Stomach Smooth Muscle	stomach
44	chr2:189156000-189159800	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:189156000-189160000	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr2:189156000-189160000	Active TSS	Brain Angular Gyrus	brain
47	chr2:189156000-189161000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:189156000-189161200	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr2:189156000-189161600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:189156200-189158600	Active TSS	HSMM	muscle

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