Variant report

Variant	rs60315122
Chromosome Location	chr11:65078141-65078142
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:65077791-65078823	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:65078112-65078871	MCF-7	breast:	n/a	n/a
3	BCL3	chr11:65077627-65078196	A549	lung:	n/a	n/a
4	POLR2A	chr11:65077655-65079212	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:65078105-65079374	U87	brain:	n/a	n/a
6	POLR2A	chr11:65078067-65079380	U87	brain:	n/a	n/a
7	POLR2A	chr11:65077451-65078210	HL-60	blood:	n/a	n/a
8	POLR2A	chr11:65077700-65080063	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:65077626-65078194	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:65077702-65079184	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr11:65077468-65079228	SK-N-MC	brain:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65060136..65062858-chr11:65077231..65083212,5	K562	blood:
2	chr11:65075418..65078976-chr11:65080570..65084670,6	MCF-7	breast:
3	chr11:65077300..65079510-chr20:52343639..52345662,2	MCF-7	breast:
4	chr11:65077010..65079617-chr11:65101633..65103467,2	K562	blood:
5	chr11:65074798..65079854-chr11:65080462..65084374,8	K562	blood:
6	chr11:65073855..65075835-chr11:65076767..65078469,2	MCF-7	breast:
7	chr11:65072805..65075705-chr11:65077209..65079832,4	K562	blood:

No data

Variant related genes	Relation type
CDC42EP2	TF binding region
ENSG00000014138	Chromatin interaction
ENSG00000149798	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1784221	1.00[EUR][1000 genomes]
rs1939938	1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149824	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647581	1.00[EUR][1000 genomes]
rs4647583	1.00[EUR][1000 genomes]
rs4647585	1.00[EUR][1000 genomes]
rs4647598	1.00[EUR][1000 genomes]
rs57267799	1.00[AFR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59646878	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61072220	1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[EUR][1000 genomes]
rs73482257	1.00[EUR][1000 genomes]
rs73482268	1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482959	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484954	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484963	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484966	1.00[AFR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484989	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897714	chr11:65076918-65091609	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65063800-65081200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr11:65065000-65081800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:65065000-65081800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:65066000-65081800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:65066400-65080800	Weak transcription	Brain Germinal Matrix	brain
6	chr11:65066600-65081600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:65066600-65081800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr11:65067000-65081800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:65068200-65079200	Genic enhancers	Fetal Intestine Small	intestine
10	chr11:65068600-65079800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:65070000-65078200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:65072000-65081000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:65072800-65081800	Weak transcription	Dnd41	blood
14	chr11:65073400-65079000	Weak transcription	Thymus	Thymus
15	chr11:65074200-65079200	Genic enhancers	Fetal Stomach	stomach
16	chr11:65074800-65079400	Enhancers	NHDF-Ad	bronchial
17	chr11:65075000-65078800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr11:65075000-65078800	Enhancers	Left Ventricle	heart
19	chr11:65075000-65079200	Enhancers	Right Ventricle	heart
20	chr11:65075000-65079800	Bivalent Enhancer	Placenta	Placenta
21	chr11:65075200-65079200	Enhancers	Lung	lung
22	chr11:65075400-65078200	Enhancers	HSMM	muscle
23	chr11:65075400-65080800	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:65075600-65079800	Enhancers	Spleen	Spleen
25	chr11:65075800-65079800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:65076400-65078200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:65076400-65081000	Weak transcription	Fetal Heart	heart
28	chr11:65076400-65081000	Weak transcription	Fetal Kidney	kidney
29	chr11:65076400-65081800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:65076600-65078200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:65076600-65080000	Enhancers	Fetal Muscle Trunk	muscle
32	chr11:65076600-65080600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr11:65076600-65080800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:65076600-65081800	Weak transcription	GM12878-XiMat	blood
35	chr11:65076800-65078200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:65076800-65078200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:65076800-65078200	Enhancers	Hela-S3	cervix
38	chr11:65076800-65078400	Weak transcription	Small Intestine	intestine
39	chr11:65076800-65081000	Enhancers	Fetal Muscle Leg	muscle
40	chr11:65076800-65081800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:65076800-65081800	Weak transcription	K562	blood
42	chr11:65077000-65078600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr11:65077000-65081000	Weak transcription	HUVEC	blood vessel
44	chr11:65077200-65079000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:65077200-65079200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:65077200-65079400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:65077200-65079800	Enhancers	HepG2	liver
48	chr11:65077400-65078200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr11:65077400-65078200	Enhancers	Osteobl	bone
50	chr11:65077400-65078600	Enhancers	Brain Anterior Caudate	brain

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