Variant report

Variant	rs73497025
Chromosome Location	chr11:34074411-34074412
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	PML	chr11:34072680-34075311	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:34072808-34075174	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:34072928-34074459	GM12891	blood:	n/a	n/a
4	TBP	chr11:34072470-34075318	K562	blood:	n/a	n/a
5	POLR2A	chr11:34072650-34075272	ProgFib	skin:	n/a	n/a
6	CHD2	chr11:34072676-34075278	Hela-S3	cervix:	n/a	n/a
7	RELA	chr11:34072695-34075299	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:34072843-34075151	GM12878	blood:	n/a	n/a
9	CREB1	chr11:34072744-34075289	HepG2	liver:	n/a	n/a
10	ELF1	chr11:34072870-34075215	GM12878	blood:	n/a	chr11:34073676-34073685 chr11:34073672-34073684 chr11:34073111-34073123 chr11:34074220-34074232 chr11:34073110-34073122 chr11:34073397-34073409 chr11:34074215-34074227
11	TCF12	chr11:34072416-34075352	A549	lung:	n/a	chr11:34073233-34073243 chr11:34072961-34072968
12	MTA3	chr11:34073735-34075416	GM12878	blood:	n/a	n/a
13	TAF1	chr11:34074178-34075264	K562	blood:	n/a	n/a
14	SP1	chr11:34072474-34074527	HCT-116	colon:	n/a	chr11:34072908-34072917 chr11:34073673-34073682 chr11:34074301-34074315 chr11:34073837-34073846 chr11:34072907-34072921 chr11:34072477-34072487 chr11:34073835-34073847 chr11:34074294-34074308 chr11:34072901-34072915 chr11:34073835-34073846 chr11:34073672-34073681 chr11:34072907-34072917 chr11:34073836-34073850 chr11:34073835-34073847
15	POLR2A	chr11:34072607-34075204	Raji	blood:	n/a	n/a
16	POLR2A	chr11:34072553-34075638	MCF10A-Er-Src	breast:	n/a	n/a
17	UBTF	chr11:34072617-34075262	K562	blood:	n/a	n/a
18	POLR2A	chr11:34072867-34074474	Gliobla	brain:	n/a	n/a
19	POLR2A	chr11:34072852-34074414	A549	lung:	n/a	n/a
20	POLR2A	chr11:34072860-34075312	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:34074198-34074520	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr11:34074325-34075286	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr11:34072909-34075377	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIN3A	chr11:34072415-34075452	H1-hESC	embryonic stem cell:	n/a	chr11:34073371-34073382 chr11:34073459-34073472 chr11:34075026-34075037
25	MAZ	chr11:34072689-34075413	GM12878	blood:	n/a	chr11:34074478-34074488
26	POLR2A	chr11:34073508-34075145	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAZ	chr11:34072942-34074924	HepG2	liver:	n/a	chr11:34074478-34074488
28	TAF1	chr11:34074327-34074551	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr11:34072598-34075335	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:34074262-34075335	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:34072350-34075511	HUVEC	blood vessel:	n/a	n/a
32	MXI1	chr11:34074339-34074480	H1-hESC	embryonic stem cell:	n/a	n/a
33	SIX5	chr11:34074308-34075105	A549	lung:	n/a	n/a
34	BHLHE40	chr11:34072627-34074539	K562	blood:	n/a	chr11:34073259-34073275
35	POLR2A	chr11:34072014-34075240	U87	brain:	n/a	n/a
36	REST	chr11:34073661-34074465	A549	lung:	n/a	n/a
37	POLR2A	chr11:34071825-34075659	GM12891	blood:	n/a	n/a
38	MYC	chr11:34074361-34074490	MCF10A-Er-Src	breast:	n/a	chr11:34074478-34074488
39	POLR2A	chr11:34072834-34075241	MCF-7	breast:	n/a	n/a
40	POLR2A	chr11:34074257-34074430	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr11:34072688-34075214	GM18951	blood:	n/a	n/a
42	POLR2A	chr11:34072521-34075393	K562	blood:	n/a	n/a
43	POLR2A	chr11:34072631-34075281	MCF-7	breast:	n/a	n/a
44	YY1	chr11:34074383-34075275	HepG2	liver:	n/a	chr11:34075026-34075037 chr11:34075022-34075036 chr11:34075017-34075027 chr11:34075015-34075027 chr11:34075005-34075027
45	MAX	chr11:34072551-34075458	A549	lung:	n/a	chr11:34074995-34075005 chr11:34074478-34074488
46	POLR2A	chr11:34072622-34075205	K562	blood:	n/a	n/a
47	POLR2A	chr11:34072778-34075231	GM15510	blood:	n/a	n/a
48	REST	chr11:34072242-34075617	H1-neurons	neurons:	n/a	chr11:34075029-34075042 chr11:34073259-34073269 chr11:34073414-34073427 chr11:34072857-34072870 chr11:34072949-34072969 chr11:34072949-34072969
49	POLR2A	chr11:34071900-34075767	SK-N-MC	brain:	n/a	n/a
50	YY1	chr11:34074409-34075164	GM12878	blood:	n/a	chr11:34075026-34075037 chr11:34075022-34075036 chr11:34075017-34075027 chr11:34075015-34075027 chr11:34075005-34075027

No.	Distal block	Cell Line	Cell type
1	chr11:34072138..34074908-chr17:56707935..56709645,2	MCF-7	breast:
2	chr11:34074052..34075664-chr12:52445107..52446753,2	MCF-7	breast:
3	chr11:34072966..34075629-chr11:34112119..34114294,2	MCF-7	breast:
4	chr11:34072006..34079358-chr11:34124269..34129390,19	K562	blood:
5	chr11:34068673..34076707-chr11:34122442..34129826,21	K562	blood:
6	chr11:34070943..34077471-chr11:34125498..34130034,9	MCF-7	breast:
7	chr11:34073154..34075111-chr11:34112117..34115103,4	K562	blood:
8	chr11:34073205..34075094-chr11:34377742..34380453,3	MCF-7	breast:
9	chr11:34073154..34074985-chr11:34112117..34113904,3	K562	blood:
10	chr11:33279061..33281281-chr11:34073248..34075291,2	K562	blood:
11	chr11:34071305..34076629-chr11:34124370..34130035,10	MCF-7	breast:
12	chr10:101380629..101381196-chr11:34073799..34074523,2	Hela-S3	cervix:
13	chr11:34071981..34076766-chr11:34377622..34383038,7	MCF-7	breast:

Variant related genes	Relation type
CAPRIN1	TF binding region
ENSG00000166016	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000135387	Chromatin interaction
ENSG00000110422	Chromatin interaction
ENSG00000135372	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000260475	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10768047	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11032506	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11032507	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11606854	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12418005	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12418412	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12419629	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925153	0.82[AFR][1000 genomes]
rs4237663	0.89[AFR][1000 genomes]
rs6484694	0.89[AFR][1000 genomes]
rs7102797	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7117217	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7117410	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7125948	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73486549	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73486551	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73497017	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7925202	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7951306	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7951543	0.91[AMR][1000 genomes];0.95[EUR][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	esv3424593	chr11:34071901-34074749	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34072200-34075600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr11:34072200-34076200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:34072400-34074800	Active TSS	Colonic Mucosa	Colon
4	chr11:34072400-34075200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:34072400-34075200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:34072400-34075200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr11:34072400-34075400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr11:34072400-34075400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:34072400-34075600	Active TSS	Psoas Muscle	Psoas
10	chr11:34072400-34075600	Active TSS	Right Ventricle	heart
11	chr11:34072400-34075800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:34072400-34075800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:34072400-34075800	Active TSS	HSMMtube	muscle
14	chr11:34072400-34076000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:34072400-34076000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:34072400-34076200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:34072400-34076400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr11:34072400-34076400	Active TSS	Fetal Brain Female	brain
19	chr11:34072400-34076400	Active TSS	GM12878-XiMat	blood
20	chr11:34072400-34076600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr11:34072400-34076600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:34072600-34074600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:34072600-34074600	Active TSS	Brain Substantia Nigra	brain
24	chr11:34072600-34074800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:34072600-34074800	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:34072600-34075200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:34072600-34075200	Active TSS	Liver	Liver
28	chr11:34072600-34075200	Active TSS	Brain Anterior Caudate	brain
29	chr11:34072600-34075200	Active TSS	Brain Cingulate Gyrus	brain
30	chr11:34072600-34075200	Active TSS	Colon Smooth Muscle	Colon
31	chr11:34072600-34075200	Active TSS	Lung	lung
32	chr11:34072600-34075200	Active TSS	Pancreas	Pancrea
33	chr11:34072600-34075200	Active TSS	Rectal Smooth Muscle	rectum
34	chr11:34072600-34075400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:34072600-34075400	Active TSS	Aorta	Aorta
36	chr11:34072600-34075400	Active TSS	Esophagus	oesophagus
37	chr11:34072600-34075400	Active TSS	Gastric	stomach
38	chr11:34072600-34075400	Active TSS	Left Ventricle	heart
39	chr11:34072600-34075400	Active TSS	Ovary	ovary
40	chr11:34072600-34075400	Active TSS	Placenta Amnion	Placenta Amnion
41	chr11:34072600-34075400	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr11:34072600-34075400	Active TSS	Stomach Mucosa	stomach
43	chr11:34072600-34075600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr11:34072600-34075600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:34072600-34075600	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr11:34072600-34075600	Active TSS	Duodenum Mucosa	Duodenum
47	chr11:34072600-34075600	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr11:34072600-34075600	Active TSS	Stomach Smooth Muscle	stomach
49	chr11:34072600-34076000	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:34072600-34076000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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