Variant report

Variant	rs34573211
Chromosome Location	chr7:56166698-56166699
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:56165849-56169236	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr7:56166041-56167350	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr7:56166076-56169320	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:56166044-56170051	K562	blood:	n/a	n/a
5	POLR2A	chr7:56165178-56175093	K562	blood:	n/a	n/a
6	POLR2A	chr7:56166621-56167323	K562	blood:	n/a	n/a
7	POLR2A	chr7:56166020-56169262	K562	blood:	n/a	n/a
8	POLR2A	chr7:56166645-56167113	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:56166046-56166758	Hela-S3	cervix:	n/a	n/a
10	ZNF384	chr7:56166075-56166879	K562	blood:	n/a	n/a
11	POLR2A	chr7:56166185-56168586	GM12891	blood:	n/a	n/a
12	POLR2A	chr7:56166665-56166956	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:56166012-56168947	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr7:56166562-56169354	K562	blood:	n/a	n/a
15	POLR2A	chr7:56165992-56166826	K562	blood:	n/a	n/a
16	POLR2A	chr7:56165333-56169250	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:56165965-56169413	GM12892	blood:	n/a	n/a
18	POLR2A	chr7:56166059-56169202	K562	blood:	n/a	n/a
19	POLR2A	chr7:56166128-56169485	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:56166001-56169490	K562	blood:	n/a	n/a
21	POLR2A	chr7:56165277-56169953	GM12891	blood:	n/a	n/a
22	POLR2A	chr7:56166662-56166834	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:56166214-56167043	MCF-7	breast:	n/a	n/a
24	POLR2A	chr7:56165910-56168620	GM12892	blood:	n/a	n/a
25	POLR2A	chr7:56166119-56169320	K562	blood:	n/a	n/a
26	POLR2A	chr7:56166650-56166914	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr7:56166032-56169378	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:56165976-56169224	HepG2	liver:	n/a	n/a
29	POLR2A	chr7:56165201-56169237	IMR90	lung:	n/a	n/a
30	POLR2A	chr7:56165185-56166767	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr7:56165022-56169038	GM12892	blood:	n/a	n/a
32	POLR2A	chr7:56165939-56169331	GM12892	blood:	n/a	n/a
33	POLR2A	chr7:56166629-56166971	HL-60	blood:	n/a	n/a
34	POLR2A	chr7:56166510-56169218	GM12891	blood:	n/a	n/a
35	POLR2A	chr7:56166079-56169024	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:56158331..56162402-chr7:56164304..56169225,5	K562	blood:
2	chr7:56165783..56167904-chr7:56180096..56183560,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238673	TF binding region
ENSG00000164776	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10085802	0.88[EUR][1000 genomes]
rs10253539	0.88[EUR][1000 genomes]
rs10253680	0.88[EUR][1000 genomes]
rs12555	0.96[EUR][1000 genomes]
rs13229704	0.96[EUR][1000 genomes]
rs13232704	0.84[EUR][1000 genomes]
rs13233037	0.84[EUR][1000 genomes]
rs13233834	0.96[EUR][1000 genomes]
rs13234504	0.96[EUR][1000 genomes]
rs13238029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13238083	0.84[EUR][1000 genomes]
rs13240361	0.96[EUR][1000 genomes]
rs13241531	0.87[EUR][1000 genomes]
rs13245395	1.00[AMR][1000 genomes]
rs13247558	0.96[EUR][1000 genomes]
rs17151447	0.96[EUR][1000 genomes]
rs2331184	0.82[EUR][1000 genomes]
rs33922584	0.91[EUR][1000 genomes]
rs34023503	0.87[EUR][1000 genomes]
rs34154824	0.96[EUR][1000 genomes]
rs34334997	0.92[EUR][1000 genomes]
rs34822782	0.88[EUR][1000 genomes]
rs35007015	0.88[EUR][1000 genomes]
rs35033933	0.96[EUR][1000 genomes]
rs35058595	0.87[EUR][1000 genomes]
rs35102507	0.96[EUR][1000 genomes]
rs35347055	0.96[EUR][1000 genomes]
rs35506072	0.96[EUR][1000 genomes]
rs35515485	0.96[EUR][1000 genomes]
rs35523043	0.96[EUR][1000 genomes]
rs35581685	0.96[EUR][1000 genomes]
rs35818005	0.96[EUR][1000 genomes]
rs35881493	0.96[EUR][1000 genomes]
rs36044787	0.96[EUR][1000 genomes]
rs36148650	0.96[EUR][1000 genomes]
rs71543774	0.84[EUR][1000 genomes]
rs71543786	0.96[EUR][1000 genomes]
rs816412	0.88[EUR][1000 genomes]
rs816413	0.88[EUR][1000 genomes]
rs816415	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56134000-56167800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:56134200-56167600	Weak transcription	Small Intestine	intestine
3	chr7:56138800-56167600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:56142000-56168000	Weak transcription	GM12878-XiMat	blood
5	chr7:56142200-56167800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr7:56146000-56167800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:56147000-56167400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:56147400-56167000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:56147400-56169800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:56147600-56167200	Weak transcription	HMEC	breast
11	chr7:56147600-56167400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:56147800-56167200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:56147800-56167400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:56148000-56167200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:56148800-56167400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:56149600-56167200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:56149800-56167600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr7:56149800-56168000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:56152000-56167400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:56155600-56167200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:56155600-56167400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:56155600-56167600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:56155800-56167000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr7:56156800-56167000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr7:56156800-56167400	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:56157800-56167600	Weak transcription	K562	blood
27	chr7:56158200-56173200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:56158400-56167000	Weak transcription	Primary T cells from cord blood	blood
29	chr7:56159600-56168200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:56160600-56167400	Weak transcription	Aorta	Aorta
31	chr7:56160600-56167600	Weak transcription	Psoas Muscle	Psoas
32	chr7:56160800-56167000	Weak transcription	A549	lung
33	chr7:56160800-56170400	Weak transcription	Fetal Brain Male	brain
34	chr7:56161000-56167000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:56161000-56167200	Weak transcription	HSMMtube	muscle
36	chr7:56161000-56167200	Weak transcription	NHEK	skin
37	chr7:56161000-56167400	Weak transcription	Brain Angular Gyrus	brain
38	chr7:56161000-56167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:56161000-56167600	Weak transcription	HSMM	muscle
40	chr7:56161000-56173000	Weak transcription	Fetal Heart	heart
41	chr7:56161200-56166800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:56161200-56166800	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:56161200-56166800	Weak transcription	Lung	lung
44	chr7:56161200-56167000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:56161200-56167000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr7:56161200-56167000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:56161200-56167200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:56161200-56167200	Weak transcription	Brain Anterior Caudate	brain
49	chr7:56161200-56167200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr7:56161200-56167200	Weak transcription	Brain Hippocampus Middle	brain

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