Variant report

Variant	rs17104335
Chromosome Location	chr14:36773477-36773478
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	POLR2A	chr14:36773460-36773485	A549	lung:	n/a	n/a
2	POLR2A	chr14:36771907-36775553	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:36763341..36766160-chr14:36772206..36774961,2	K562	blood:
2	chr14:36760298..36763164-chr14:36770896..36773643,2	K562	blood:
3	chr14:36772767..36774449-chr14:36777469..36780447,2	K562	blood:

Variant related genes	Relation type
MBIP	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11845435	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11848982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11850315	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104290	0.84[AMR][1000 genomes]
rs17104312	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17104348	0.91[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17104349	0.91[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35977589	0.84[AFR][1000 genomes]
rs41479848	0.81[ASW][hapmap];0.91[LWK][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59719230	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73253625	0.83[AFR][1000 genomes]
rs73253634	0.91[AMR][1000 genomes]
rs73253635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253636	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944138	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3429093	chr14:36674701-36827119	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3367425	chr14:36674721-36827089	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1042408	chr14:36693910-36810554	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv542043	chr14:36693910-36810554	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv2751271	chr14:36745649-36782949	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv534143	chr14:36747497-36787893	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2752577	chr14:36768276-36805529	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1040487	chr14:36770813-36805621	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv832771	chr14:36771007-36964041	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr14:36761000-36785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:36762000-36778800	Weak transcription	Fetal Intestine Small	intestine
3	chr14:36763800-36777800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:36764400-36784000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:36765000-36779400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:36765000-36781200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:36765200-36781400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:36765400-36775200	Strong transcription	Adipose Nuclei	Adipose
9	chr14:36765400-36781400	Strong transcription	Placenta	Placenta
10	chr14:36765400-36788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:36765600-36781000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:36765800-36775600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr14:36765800-36776400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:36765800-36780000	Weak transcription	K562	blood
15	chr14:36765800-36781000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr14:36765800-36781200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:36765800-36782200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:36766000-36775200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr14:36766000-36777800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:36766000-36781000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr14:36766000-36781000	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:36766000-36781400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr14:36766000-36783400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:36766200-36778000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr14:36766200-36781200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:36766200-36781200	Strong transcription	Fetal Thymus	thymus
27	chr14:36766200-36781200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr14:36766200-36781400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr14:36766200-36785400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:36766400-36779200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:36766600-36788000	Weak transcription	Fetal Heart	heart
32	chr14:36766800-36779600	Weak transcription	Right Ventricle	heart
33	chr14:36767000-36781000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:36767000-36781400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr14:36767200-36779400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:36767400-36778000	Weak transcription	Thymus	Thymus
37	chr14:36767400-36778200	Weak transcription	Lung	lung
38	chr14:36767400-36789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:36767400-36789200	Weak transcription	Spleen	Spleen
40	chr14:36767600-36778200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:36767600-36779200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:36767600-36780200	Weak transcription	Psoas Muscle	Psoas
43	chr14:36767800-36779600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:36767800-36779600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:36768000-36774000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr14:36768200-36774000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:36768200-36774800	Weak transcription	Brain Substantia Nigra	brain
48	chr14:36768200-36776600	Weak transcription	HSMMtube	muscle
49	chr14:36768200-36780400	Weak transcription	NHEK	skin
50	chr14:36768400-36776200	Weak transcription	Brain Inferior Temporal Lobe	brain

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