Variant report

Variant	rs188222651
Chromosome Location	chr2:11295099-11295100
allele	A/C
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	chr2:11294765-11295220	A549	lung:	n/a	n/a
2	CCNT2	chr2:11294847-11295167	K562	blood:	n/a	n/a
3	POLR2A	chr2:11294711-11295310	A549	lung:	n/a	n/a
4	CBX3	chr2:11294535-11295165	K562	blood:	n/a	n/a
5	POLR2A	chr2:11294498-11295955	K562	blood:	n/a	n/a
6	USF1	chr2:11294979-11295212	A549	lung:	n/a	chr2:11295131-11295147
7	SMC3	chr2:11294985-11295251	Hela-S3	cervix:	n/a	n/a
8	ELF1	chr2:11294642-11295434	MCF-7	breast:	n/a	chr2:11295167-11295178 chr2:11295167-11295178 chr2:11295136-11295145
9	POLR2A	chr2:11295010-11295197	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:11294700-11295255	GM12891	blood:	n/a	n/a
11	REST	chr2:11294987-11295215	SK-N-SH	brain:	n/a	n/a
12	MYC	chr2:11294951-11295194	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:11294986-11295229	A549	lung:	n/a	n/a
14	REST	chr2:11295002-11295191	K562	blood:	n/a	n/a
15	HCFC1	chr2:11294496-11295169	K562	blood:	n/a	n/a
16	ZKSCAN1	chr2:11294937-11295223	Hela-S3	cervix:	n/a	n/a
17	E2F6	chr2:11294713-11295237	K562	blood:	n/a	chr2:11295137-11295147
18	MAX	chr2:11294672-11296003	NB4	blood:	n/a	chr2:11294830-11294839
19	POLR2A	chr2:11294658-11295953	H1-hESC	embryonic stem cell:	n/a	n/a
20	YY1	chr2:11294969-11295216	K562	blood:	n/a	chr2:11295133-11295147
21	SIN3AK20	chr2:11294598-11296478	MCF-7	breast:	n/a	n/a
22	SIN3AK20	chr2:11294808-11295254	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr2:11294573-11295227	MCF10A-Er-Src	breast:	n/a	n/a
24	TBP	chr2:11294505-11296224	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr2:11294760-11295238	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr2:11294566-11295205	GM12891	blood:	n/a	n/a
27	ELF1	chr2:11294733-11295413	GM12878	blood:	n/a	chr2:11295167-11295178 chr2:11295167-11295178 chr2:11295136-11295145
28	POLR2A	chr2:11294463-11295376	GM12878	blood:	n/a	n/a
29	MYC	chr2:11294715-11295294	K562	blood:	n/a	chr2:11294830-11294839
30	HDAC2	chr2:11294837-11295361	MCF-7	breast:	n/a	n/a
31	TAF1	chr2:11294719-11295252	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr2:11294890-11295305	K562	blood:	n/a	n/a
33	POLR2A	chr2:11294938-11295828	HepG2	liver:	n/a	n/a
34	POLR2A	chr2:11294537-11295223	GM12891	blood:	n/a	n/a
35	POLR2A	chr2:11294811-11295215	A549	lung:	n/a	n/a
36	MYC	chr2:11294684-11296006	NB4	blood:	n/a	chr2:11294830-11294839
37	POU2F2	chr2:11295041-11295214	GM12878	blood:	n/a	chr2:11295172-11295186
38	TAF1	chr2:11294981-11295255	GM12878	blood:	n/a	n/a
39	MAX	chr2:11294625-11296349	MCF-7	breast:	n/a	chr2:11294830-11294839
40	POLR2A	chr2:11294729-11295398	U87	brain:	n/a	n/a
41	POLR2A	chr2:11294455-11296181	GM12892	blood:	n/a	n/a
42	REST	chr2:11294837-11295242	HL-60	blood:	n/a	n/a
43	TFAP2A	chr2:11294610-11295333	Hela-S3	cervix:	n/a	chr2:11295198-11295213 chr2:11295073-11295081 chr2:11295134-11295145 chr2:11295067-11295082 chr2:11295073-11295081 chr2:11295070-11295085 chr2:11295196-11295208 chr2:11295197-11295208 chr2:11295073-11295081
44	YY1	chr2:11294886-11295322	ECC-1	luminal epithelium:	n/a	chr2:11295133-11295147
45	POLR2A	chr2:11294811-11295958	Gliobla	brain:	n/a	n/a
46	POLR2A	chr2:11294575-11295211	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr2:11294902-11295949	HEK293	kidney:	n/a	n/a
48	E2F6	chr2:11294406-11295324	A549	lung:	n/a	chr2:11294633-11294650 chr2:11295137-11295147
49	POLR2A	chr2:11294628-11295997	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr2:11295014-11295211	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11293490..11296297-chr2:11680693..11684323,3	MCF-7	breast:
2	chr2:11273055..11275301-chr2:11293268..11296881,3	MCF-7	breast:
3	chr2:11294716..11295342-chr7:26239803..26240689,2	Hela-S3	cervix:
4	chr2:11292941..11297094-chr2:11480820..11486254,6	MCF-7	breast:
5	chr2:11273067..11276077-chr2:11294167..11297061,3	K562	blood:
6	chr2:11294308..11297184-chr2:11482767..11485221,3	K562	blood:
7	chr2:11271098..11275692-chr2:11293512..11297101,4	MCF-7	breast:
8	chr2:11292916..11295580-chr2:11604494..11607840,3	MCF-7	breast:
9	chr2:11284657..11286652-chr2:11293189..11295227,2	K562	blood:
10	chr2:11294400..11297941-chr2:11298345..11302243,10	MCF-7	breast:

Variant related genes	Relation type
PQLC3	TF binding region
ENSG00000134318	Chromatin interaction
ENSG00000169016	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000264010	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520789	chr2:11259067-11312224	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3392188	chr2:11294026-11296874	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
3	esv3368553	chr2:11294376-11296624	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 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	chr2:11294400-11295200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr2:11294400-11295200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:11294400-11295200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr2:11294400-11296000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:11294400-11296000	Active TSS	Brain Substantia Nigra	brain
6	chr2:11294600-11295200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:11294600-11295200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:11294600-11295200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr2:11294600-11295200	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr2:11294600-11295200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr2:11294600-11295200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr2:11294600-11295200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr2:11294600-11295200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:11294600-11295200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr2:11294600-11295200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:11294600-11295200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:11294600-11295200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:11294600-11295200	Flanking Active TSS	Liver	Liver
19	chr2:11294600-11295200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr2:11294600-11295200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr2:11294600-11295200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
22	chr2:11294600-11295200	Flanking Active TSS	Dnd41	blood
23	chr2:11294600-11295200	Flanking Active TSS	HUVEC	blood vessel
24	chr2:11294600-11295200	Flanking Active TSS	NH-A	brain
25	chr2:11294600-11296000	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr2:11294600-11296000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:11294600-11296000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:11294600-11296000	Active TSS	Brain Anterior Caudate	brain
29	chr2:11294600-11296000	Active TSS	Brain Hippocampus Middle	brain
30	chr2:11294600-11296000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:11294600-11296000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr2:11294600-11296000	Active TSS	Esophagus	oesophagus
33	chr2:11294600-11296000	Enhancers	Fetal Brain Male	brain
34	chr2:11294600-11296200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr2:11294600-11296200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:11294600-11296200	Active TSS	Aorta	Aorta
37	chr2:11294600-11296400	Active TSS	H9 Cell Line	embryonic stem cell
38	chr2:11294600-11296400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:11294600-11296400	Active TSS	Ovary	ovary
40	chr2:11294600-11296400	Active TSS	Thymus	Thymus
41	chr2:11294800-11295200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:11294800-11295200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:11294800-11295200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:11294800-11295200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:11294800-11295200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:11294800-11295200	Flanking Active TSS	Fetal Brain Female	brain
47	chr2:11294800-11295200	Flanking Active TSS	HMEC	breast
48	chr2:11294800-11295600	Weak transcription	Spleen	Spleen
49	chr2:11294800-11295800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr2:11294800-11296000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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