Variant report

Variant	rs16835698
Chromosome Location	chr1:150251120-150251121
allele	A/G
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	RUNX3	chr1:150251071-150251439	GM12878	blood:	n/a	n/a
2	SPI1	chr1:150251087-150251482	GM12891	blood:	n/a	chr1:150251348-150251357
3	BATF	chr1:150251116-150251509	GM12878	blood:	n/a	n/a
4	ARID3A	chr1:150250797-150251136	HepG2	liver:	n/a	n/a
5	IRF4	chr1:150251117-150251532	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150249314..150251862-chr1:150292690..150295830,3	MCF-7	breast:
2	chr1:150248711..150251373-chr1:150294056..150296780,2	MCF-7	breast:
3	chr1:150247383..150251206-chr1:150256020..150261990,7	K562	blood:

Variant related genes	Relation type
C1orf51	TF binding region
ENSG00000117360	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10157434	1.00[MKK][hapmap]
rs10480	1.00[CHD][hapmap]
rs16835714	1.00[YRI][hapmap]
rs16835872	0.87[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16835995	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16836615	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16836849	0.87[ASW][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16836939	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16837013	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16837048	0.87[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2298166	1.00[MEX][hapmap]
rs34755378	1.00[CHD][hapmap]
rs3818872	1.00[CHD][hapmap]
rs56871849	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59540922	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61008863	1.00[AMR][1000 genomes]

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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
3	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv535154	chr1:150214907-150265508	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150241800-150253400	Weak transcription	Ovary	ovary
2	chr1:150241800-150253800	Weak transcription	Esophagus	oesophagus
3	chr1:150241800-150253800	Weak transcription	Gastric	stomach
4	chr1:150241800-150254200	Weak transcription	Spleen	Spleen
5	chr1:150242000-150253400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:150242000-150253800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:150242200-150252600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:150242200-150253200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:150242200-150253200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:150242200-150253400	Weak transcription	Primary T cells from cord blood	blood
11	chr1:150242200-150253400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:150242400-150253000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:150242400-150253200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:150242600-150253200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:150245400-150253600	Weak transcription	Brain Angular Gyrus	brain
16	chr1:150245600-150252800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:150245600-150252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:150245600-150252800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:150245600-150253200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:150245600-150253400	Weak transcription	Placenta	Placenta
21	chr1:150245600-150253800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:150245600-150253800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:150245600-150253800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:150245600-150253800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:150245600-150254200	Weak transcription	Lung	lung
26	chr1:150245800-150252600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:150245800-150252800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:150245800-150253400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:150245800-150253800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:150245800-150253800	Weak transcription	Left Ventricle	heart
31	chr1:150245800-150253800	Weak transcription	Right Ventricle	heart
32	chr1:150245800-150254000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:150246000-150252400	Weak transcription	Fetal Intestine Large	intestine
34	chr1:150246000-150252400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:150246000-150253400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:150246000-150253400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:150246000-150253800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:150246000-150254000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:150246200-150253400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:150246200-150253400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:150246200-150253400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr1:150246200-150253600	Weak transcription	Fetal Kidney	kidney
43	chr1:150246200-150254000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:150246400-150251600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:150246400-150252200	Weak transcription	Colonic Mucosa	Colon
46	chr1:150246400-150252800	Weak transcription	Brain Anterior Caudate	brain
47	chr1:150246400-150252800	Weak transcription	Right Atrium	heart
48	chr1:150246400-150252800	Weak transcription	NHDF-Ad	bronchial
49	chr1:150246400-150253000	Weak transcription	NHLF	lung
50	chr1:150246400-150253400	Weak transcription	H1 Cell Line	embryonic stem cell

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