Variant report

Variant	rs11102493
Chromosome Location	chr1:113088303-113088304
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	POLR2A	chr1:113088191-113088531	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:113086848..113091301-chr1:113248595..113251395,3	MCF-7	breast:
2	chr1:113086982..113089637-chr1:113161237..113164103,3	K562	blood:

Variant related genes	Relation type
ST7L	TF binding region
ENSG00000116489	Chromatin interaction
ENSG00000155366	Chromatin interaction
ENSG00000007341	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11102490	1.00[MEX][hapmap]
rs1175632	1.00[MEX][hapmap]
rs1175640	1.00[MEX][hapmap]
rs1175642	1.00[MEX][hapmap]
rs12073750	1.00[MEX][hapmap]
rs12085734	1.00[MEX][hapmap]
rs12087862	1.00[MEX][hapmap]
rs12092350	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12094504	1.00[MEX][hapmap]
rs17030350	1.00[MEX][hapmap]
rs17030446	1.00[MEX][hapmap]
rs17030475	1.00[MEX][hapmap]
rs1936047	1.00[MEX][hapmap]
rs41283058	1.00[EUR][1000 genomes]
rs41306191	1.00[EUR][1000 genomes]
rs45626331	1.00[EUR][1000 genomes]
rs72982508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7538730	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7542272	1.00[MEX][hapmap]
rs9919308	1.00[MEX][hapmap]

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	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv432631	chr1:113071834-113200797	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113052200-113093200	Weak transcription	Brain Substantia Nigra	brain
2	chr1:113058800-113119400	Weak transcription	HepG2	liver
3	chr1:113060200-113132400	Weak transcription	Pancreas	Pancrea
4	chr1:113062400-113117400	Weak transcription	Psoas Muscle	Psoas
5	chr1:113063400-113092400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:113064400-113132200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:113065000-113092400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:113065200-113114800	Weak transcription	Small Intestine	intestine
9	chr1:113065400-113114600	Weak transcription	Fetal Brain Male	brain
10	chr1:113066000-113088800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:113066000-113114600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr1:113066000-113132200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:113066200-113114400	Weak transcription	Dnd41	blood
14	chr1:113067000-113117400	Weak transcription	Fetal Thymus	thymus
15	chr1:113067800-113090200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:113068000-113089600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:113068000-113100200	Weak transcription	Fetal Heart	heart
18	chr1:113070400-113095400	Weak transcription	Gastric	stomach
19	chr1:113070400-113120600	Weak transcription	Right Ventricle	heart
20	chr1:113070600-113111600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:113070600-113112400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:113070600-113112400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:113070600-113117800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:113070600-113120200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr1:113070600-113132400	Weak transcription	Aorta	Aorta
26	chr1:113071200-113090600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:113072000-113114400	Weak transcription	Brain Anterior Caudate	brain
28	chr1:113076400-113115200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:113078800-113090200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:113080200-113117800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr1:113080800-113117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:113081200-113132200	Weak transcription	Primary B cells from cord blood	blood
33	chr1:113081400-113132400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:113081800-113132200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:113082000-113106600	Weak transcription	Fetal Kidney	kidney
36	chr1:113082000-113116000	Weak transcription	Left Ventricle	heart
37	chr1:113082000-113117400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:113082200-113118000	Weak transcription	Lung	lung
39	chr1:113083200-113123200	Weak transcription	Right Atrium	heart
40	chr1:113083600-113091000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:113083600-113111600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:113083600-113114400	Weak transcription	Fetal Brain Female	brain
43	chr1:113083600-113117400	Weak transcription	Brain Angular Gyrus	brain
44	chr1:113084000-113114600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:113084000-113131400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:113084200-113090600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:113084200-113091000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:113084200-113104400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:113084200-113110200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:113084200-113114800	Weak transcription	Primary monocytes fromperipheralblood	blood

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