Variant report

Variant	rs187942539
Chromosome Location	chr17:46189539-46189540
allele	C/T
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	chr17:46188957-46189623	GM12891	blood:	n/a	n/a
2	NFIC	chr17:46188975-46189562	GM12878	blood:	n/a	chr17:46189213-46189229
3	POLR2A	chr17:46189022-46189572	GM12891	blood:	n/a	n/a
4	POLR2A	chr17:46189491-46189586	GM12878	blood:	n/a	n/a
5	NFIC	chr17:46188901-46189997	GM12878	blood:	n/a	chr17:46189213-46189229
6	RELA	chr17:46188955-46189614	GM19193	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
7	ZNF143	chr17:46189056-46189799	GM12878	blood:	n/a	n/a
8	MEF2A	chr17:46189009-46189549	GM12878	blood:	n/a	n/a
9	CEBPB	chr17:46188917-46189850	GM12878	blood:	n/a	n/a
10	PML	chr17:46188887-46189666	GM12878	blood:	n/a	n/a
11	POLR2A	chr17:46188940-46189616	GM12892	blood:	n/a	n/a
12	RELA	chr17:46188997-46190074	GM18951	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
13	POLR2A	chr17:46188895-46190142	GM12878	blood:	n/a	n/a
14	USF2	chr17:46189535-46189586	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr17:46185296-46189875	K562	blood:	n/a	n/a
16	RELA	chr17:46189028-46190012	GM12878	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
17	BHLHE40	chr17:46188160-46189547	GM12878	blood:	n/a	n/a
18	MEF2A	chr17:46189030-46189777	GM12878	blood:	n/a	n/a
19	ATF2	chr17:46188938-46189793	GM12878	blood:	n/a	n/a
20	WRNIP1	chr17:46189084-46190099	GM12878	blood:	n/a	n/a
21	FOXM1	chr17:46188949-46189790	GM12878	blood:	n/a	n/a
22	STAT5A	chr17:46188917-46190116	GM12878	blood:	n/a	n/a
23	RELA	chr17:46188997-46190062	GM18505	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
24	MEF2C	chr17:46189028-46189569	GM12878	blood:	n/a	n/a
25	POLR2A	chr17:46188950-46190141	GM12878	blood:	n/a	n/a
26	TBP	chr17:46189006-46190018	GM12878	blood:	n/a	n/a
27	MTA3	chr17:46188931-46189831	GM12878	blood:	n/a	n/a
28	RUNX3	chr17:46188917-46189621	GM12878	blood:	n/a	n/a
29	EP300	chr17:46189111-46189560	GM12878	blood:	n/a	n/a
30	RELA	chr17:46188974-46189601	GM18526	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
31	RELA	chr17:46188922-46189722	GM19099	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
32	MXI1	chr17:46189010-46189580	GM12878	blood:	n/a	n/a
33	BCLAF1	chr17:46188980-46189597	GM12878	blood:	n/a	chr17:46189319-46189328 chr17:46189285-46189294
34	RELA	chr17:46189011-46189870	GM15510	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
35	RCOR1	chr17:46188439-46189874	GM12878	blood:	n/a	n/a
36	NFATC1	chr17:46188910-46189874	GM12878	blood:	n/a	n/a
37	MTA3	chr17:46188918-46190137	GM12878	blood:	n/a	n/a
38	POLR2A	chr17:46189009-46189558	GM12891	blood:	n/a	n/a
39	POLR2A	chr17:46188955-46189602	GM12892	blood:	n/a	n/a
40	RELA	chr17:46188975-46189945	GM10847	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
41	POLR2A	chr17:46187976-46190071	GM12878	blood:	n/a	n/a
42	ATF2	chr17:46188924-46189546	GM12878	blood:	n/a	n/a
43	POLR2A	chr17:46188895-46189707	GM12892	blood:	n/a	n/a
44	RELA	chr17:46188190-46190034	GM12891	blood:	n/a	chr17:46189318-46189327 chr17:46189318-46189327
45	USF2	chr17:46189536-46189879	GM12878	blood:	n/a	n/a
46	NFATC1	chr17:46188916-46189866	GM12878	blood:	n/a	n/a
47	POLR2A	chr17:46188949-46189707	GM12892	blood:	n/a	n/a
48	EBF1	chr17:46187646-46189774	GM12878	blood:	n/a	chr17:46189195-46189206
49	CUX1	chr17:46189062-46189794	GM12878	blood:	n/a	n/a
50	POLR2A	chr17:46188961-46189594	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46184602..46186632-chr17:46186895..46189927,3	MCF-7	breast:
2	chr17:46125014..46129511-chr17:46182877..46189561,8	K562	blood:
3	chr17:46124943..46127247-chr17:46188061..46189641,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNX11-4	chr17:46189393-46189817	NONHSAT054382

Variant related genes	Relation type
SNX11	TF binding region
ENSG00000263412	Chromatin interaction
ENSG00000002919	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv112217	chr17:46182711-46190093	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv1007058	chr17:46188741-46200367	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46185600-46191000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:46185800-46190000	Weak transcription	Lung	lung
3	chr17:46185800-46193000	Weak transcription	Gastric	stomach
4	chr17:46185800-46195800	Weak transcription	Ovary	ovary
5	chr17:46186000-46195200	Weak transcription	Aorta	Aorta
6	chr17:46186000-46196200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:46186000-46198600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:46186200-46189600	Weak transcription	Fetal Muscle Leg	muscle
9	chr17:46186200-46189600	Weak transcription	Thymus	Thymus
10	chr17:46186200-46189800	Weak transcription	Fetal Stomach	stomach
11	chr17:46186200-46190000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:46186200-46190400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr17:46186200-46190400	Weak transcription	Esophagus	oesophagus
14	chr17:46186200-46190400	Weak transcription	Fetal Kidney	kidney
15	chr17:46186200-46190600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr17:46186200-46190600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr17:46186200-46192000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr17:46186200-46192600	Weak transcription	Colon Smooth Muscle	Colon
19	chr17:46186200-46192600	Weak transcription	A549	lung
20	chr17:46186200-46193800	Weak transcription	Fetal Lung	lung
21	chr17:46186200-46195000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:46186200-46195200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:46186200-46196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:46186200-46198600	Weak transcription	Fetal Brain Male	brain
25	chr17:46186200-46203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr17:46186400-46189600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr17:46186400-46189800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr17:46186400-46189800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr17:46186400-46190000	Weak transcription	Brain Germinal Matrix	brain
30	chr17:46186400-46190400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr17:46186400-46190400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:46186400-46190400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:46186400-46190400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr17:46186400-46190400	Weak transcription	NHLF	lung
35	chr17:46186400-46191800	Weak transcription	Fetal Intestine Large	intestine
36	chr17:46186400-46192200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr17:46186400-46192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:46186400-46193000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:46186400-46193000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr17:46186400-46193400	Weak transcription	Osteobl	bone
41	chr17:46186400-46193600	Weak transcription	HSMMtube	muscle
42	chr17:46186400-46194800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr17:46186400-46195000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr17:46186400-46195000	Weak transcription	HSMM	muscle
45	chr17:46186400-46195000	Weak transcription	NHDF-Ad	bronchial
46	chr17:46186400-46195200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr17:46186400-46195400	Weak transcription	Brain Angular Gyrus	brain
48	chr17:46186400-46195400	Weak transcription	NH-A	brain
49	chr17:46186400-46196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr17:46186400-46196000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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