Variant report

Variant	rs73501046
Chromosome Location	chr11:34125513-34125514
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr11:34125422-34125648	K562	blood:	n/a	n/a
2	BCLAF1	chr11:34125506-34127748	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:34124455-34128004	K562	blood:	n/a	n/a
4	POLR2A	chr11:34125395-34127838	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:34125355-34125618	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:34124137-34127718	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:34125289-34127190	K562	blood:	n/a	n/a
8	PML	chr11:34125199-34127890	GM12878	blood:	n/a	chr11:34127259-34127267
9	POLR2A	chr11:34125324-34125829	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr11:34125251-34126462	K562	blood:	n/a	n/a
11	POLR2A	chr11:34124039-34127882	K562	blood:	n/a	n/a
12	POLR2A	chr11:34123174-34128281	K562	blood:	n/a	n/a
13	POLR2A	chr11:34125333-34127844	GM18505	blood:	n/a	n/a
14	POLR2A	chr11:34125212-34127919	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:34125339-34127636	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:34125410-34127668	GM18526	blood:	n/a	n/a
17	POLR2A	chr11:34124110-34127755	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:34121383-34128525	HepG2	liver:	n/a	n/a
19	NFATC1	chr11:34125251-34127711	GM12878	blood:	n/a	n/a
20	BCL3	chr11:34125289-34127627	A549	lung:	n/a	n/a
21	PML	chr11:34125205-34127939	K562	blood:	n/a	chr11:34127259-34127267
22	POLR2A	chr11:34125241-34127998	K562	blood:	n/a	n/a
23	POLR2A	chr11:34125298-34127702	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr11:34125299-34127687	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr11:34125323-34125914	Hela-S3	cervix:	n/a	n/a
26	TCF12	chr11:34125463-34127922	A549	lung:	n/a	chr11:34125470-34125477
27	POLR2A	chr11:34125314-34128004	GM12891	blood:	n/a	n/a
28	POLR2A	chr11:34125384-34127952	K562	blood:	n/a	n/a
29	MTA3	chr11:34125216-34128014	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:34125375-34127599	NB4	blood:	n/a	n/a
31	HCFC1	chr11:34125273-34128459	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr11:34125500-34125650	GM12865	blood:	n/a	n/a
33	CHD2	chr11:34125393-34127669	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr11:34125391-34127706	GM18951	blood:	n/a	n/a
35	POLR2A	chr11:34123811-34127766	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr11:34125300-34127858	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr11:34125073-34127862	U87	brain:	n/a	n/a
38	POLR2A	chr11:34123966-34128081	GM12892	blood:	n/a	n/a
39	POLR2A	chr11:34123712-34128000	GM12891	blood:	n/a	n/a
40	POLR2A	chr11:34125276-34127831	HL-60	blood:	n/a	n/a
41	POLR2A	chr11:34125226-34128019	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr11:34124070-34128032	GM12891	blood:	n/a	n/a
43	POLR2A	chr11:34125312-34125614	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:34125255-34127963	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr11:34125281-34127560	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr11:34124281-34127805	MCF-7	breast:	n/a	n/a
47	POLR2A	chr11:34119916-34128220	K562	blood:	n/a	n/a
48	CCNT2	chr11:34125399-34125812	K562	blood:	n/a	n/a
49	POLR2A	chr11:34125328-34127698	U87	brain:	n/a	n/a
50	POLR2A	chr11:34123756-34128262	A549	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:34122891..34125542-chr11:34164047..34165563,2	K562	blood:
2	chr11:34072006..34079358-chr11:34124269..34129390,19	K562	blood:
3	chr11:34068673..34076707-chr11:34122442..34129826,21	K562	blood:
4	chr11:34071305..34076629-chr11:34124370..34130035,10	MCF-7	breast:
5	chr11:34070943..34077471-chr11:34125498..34130034,9	MCF-7	breast:
6	chr11:34115146..34119310-chr11:34123587..34128957,8	K562	blood:
7	chr11:34106541..34110325-chr11:34122744..34126295,3	K562	blood:
8	chr11:34105212..34107740-chr11:34124553..34126894,2	MCF-7	breast:
9	chr11:34123093..34125521-chr11:34130481..34132154,2	MCF-7	breast:
10	chr11:34106106..34107608-chr11:34124928..34126628,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPRIN1-1	chr11:34125502-34125789	l_460_chr11:34125501-34127710_ovary

No data

Variant related genes	Relation type
NAT10	TF binding region
ENSG00000135387	Chromatin interaction

rs_ID	r²[population]
rs11605751	0.84[AFR][1000 genomes]
rs36006049	1.00[AFR][1000 genomes]
rs57975123	1.00[AFR][1000 genomes]
rs58487250	1.00[AFR][1000 genomes]
rs61596717	0.91[AFR][1000 genomes]
rs68136693	1.00[AFR][1000 genomes]
rs73486510	0.91[AFR][1000 genomes]
rs73486543	1.00[AFR][1000 genomes]
rs73497021	1.00[AFR][1000 genomes]
rs73497046	0.84[AFR][1000 genomes]
rs73497058	1.00[AFR][1000 genomes]
rs73497061	1.00[AFR][1000 genomes]
rs73499094	1.00[AFR][1000 genomes]
rs73500435	1.00[AFR][1000 genomes]
rs73500462	1.00[AFR][1000 genomes]
rs73500465	1.00[AFR][1000 genomes]
rs73500472	1.00[AFR][1000 genomes]
rs73500476	0.91[AFR][1000 genomes]
rs73500825	0.91[AFR][1000 genomes]
rs73500839	0.91[AFR][1000 genomes]
rs73500853	0.91[AFR][1000 genomes]
rs73500860	0.84[AFR][1000 genomes]
rs73501015	1.00[AFR][1000 genomes]
rs73501036	1.00[AFR][1000 genomes]
rs73501051	1.00[AFR][1000 genomes]
rs73501061	1.00[AFR][1000 genomes]
rs73501093	1.00[AFR][1000 genomes]
rs73501100	1.00[AFR][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34079000-34126600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34083400-34126600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:34097200-34126200	Weak transcription	Stomach Mucosa	stomach
4	chr11:34104000-34125600	Strong transcription	NH-A	brain
5	chr11:34111200-34126600	Weak transcription	Small Intestine	intestine
6	chr11:34112600-34126400	Weak transcription	Right Atrium	heart
7	chr11:34116600-34126400	Weak transcription	Aorta	Aorta
8	chr11:34116800-34126200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:34116800-34126600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:34117200-34126400	Weak transcription	Fetal Stomach	stomach
11	chr11:34118400-34126200	Weak transcription	Fetal Intestine Small	intestine
12	chr11:34119000-34126200	Weak transcription	Fetal Brain Male	brain
13	chr11:34119400-34126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:34120800-34126000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:34120800-34126400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:34120800-34126400	Weak transcription	Right Ventricle	heart
17	chr11:34120800-34126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:34120800-34126600	Weak transcription	Pancreas	Pancrea
19	chr11:34121000-34126400	Weak transcription	Esophagus	oesophagus
20	chr11:34121000-34126600	Weak transcription	Gastric	stomach
21	chr11:34121200-34126600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:34121600-34125600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:34121600-34126400	Weak transcription	Spleen	Spleen
24	chr11:34121600-34126600	Weak transcription	Lung	lung
25	chr11:34122000-34125600	Weak transcription	Thymus	Thymus
26	chr11:34122200-34125800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr11:34122200-34126200	Weak transcription	Fetal Brain Female	brain
28	chr11:34122200-34126200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:34122200-34126400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:34122200-34126400	Weak transcription	Brain Germinal Matrix	brain
31	chr11:34122400-34125800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:34122400-34126000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:34122400-34126000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:34122400-34126000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:34122400-34126000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:34122400-34126000	Weak transcription	HepG2	liver
37	chr11:34122400-34126200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:34122400-34126400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:34122400-34126400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:34122400-34126400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:34122400-34126400	Weak transcription	Colonic Mucosa	Colon
42	chr11:34122400-34126600	Weak transcription	Ovary	ovary
43	chr11:34122400-34126600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:34122600-34125800	Weak transcription	Primary B cells from cord blood	blood
45	chr11:34122600-34126200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:34122800-34126000	Weak transcription	Fetal Muscle Leg	muscle
47	chr11:34122800-34126000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:34122800-34126000	Weak transcription	HMEC	breast
49	chr11:34123000-34125600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:34123000-34126200	Weak transcription	H9 Cell Line	embryonic stem cell

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