Variant report

Variant	rs33675
Chromosome Location	chr5:36154453-36154454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr5:36153549-36154472	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:36150467..36154483-chr5:36238242..36244873,13	K562	blood:
2	chr5:36151113..36153475-chr5:36154153..36156176,2	MCF-7	breast:
3	chr5:36150463..36155255-chr5:36239958..36244873,10	K562	blood:
4	chr5:36149758..36152986-chr5:36154099..36157491,3	MCF-7	breast:
5	chr5:36150277..36153703-chr5:36154371..36162094,13	K562	blood:

No data

Variant related genes	Relation type
RNU6-1305P	TF binding region
LMBRD2	TF binding region
ENSG00000145604	Chromatin interaction
ENSG00000164187	Chromatin interaction
ENSG00000152620	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs155539	1.00[AMR][1000 genomes]
rs155540	1.00[AMR][1000 genomes]
rs155542	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs155545	1.00[AMR][1000 genomes]
rs155547	1.00[AMR][1000 genomes]
rs155548	1.00[AMR][1000 genomes]
rs155549	1.00[AMR][1000 genomes]
rs267752	1.00[AMR][1000 genomes]
rs267755	1.00[AMR][1000 genomes]
rs267756	1.00[AMR][1000 genomes]
rs267760	1.00[AMR][1000 genomes]
rs267761	1.00[AMR][1000 genomes]
rs267762	1.00[AMR][1000 genomes]
rs267763	1.00[AMR][1000 genomes]
rs267788	1.00[AMR][1000 genomes]
rs267791	1.00[AMR][1000 genomes]
rs267794	1.00[AMR][1000 genomes]
rs33614	1.00[AMR][1000 genomes]
rs33618	1.00[AMR][1000 genomes]
rs33677	1.00[AMR][1000 genomes]
rs33680	1.00[AMR][1000 genomes]
rs33681	1.00[AMR][1000 genomes]
rs40029	1.00[AMR][1000 genomes]
rs40031	1.00[AMR][1000 genomes]
rs41113	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs41114	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs42213	1.00[AMR][1000 genomes]
rs423753	1.00[AMR][1000 genomes]
rs56135557	1.00[AMR][1000 genomes]
rs56989767	1.00[AMR][1000 genomes]
rs57273729	1.00[AMR][1000 genomes]
rs57579833	1.00[AMR][1000 genomes]
rs58168401	1.00[AMR][1000 genomes]
rs58457055	1.00[AMR][1000 genomes]
rs59164775	1.00[AMR][1000 genomes]
rs6890988	1.00[AMR][1000 genomes]
rs73076197	1.00[AMR][1000 genomes]
rs73076199	1.00[AMR][1000 genomes]
rs73078005	1.00[AMR][1000 genomes]
rs73078010	1.00[AMR][1000 genomes]
rs73078011	1.00[AMR][1000 genomes]
rs73748791	1.00[AMR][1000 genomes]
rs73751604	1.00[AMR][1000 genomes]
rs73751606	1.00[AMR][1000 genomes]
rs73751607	1.00[AMR][1000 genomes]
rs73751624	1.00[AMR][1000 genomes]
rs7713019	1.00[AMR][1000 genomes]
rs7723762	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36148600-36154600	Active TSS	GM12878-XiMat	blood
2	chr5:36152400-36155000	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr5:36152800-36155600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
4	chr5:36153000-36154600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:36153000-36156200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:36153000-36156400	Weak transcription	Aorta	Aorta
7	chr5:36153000-36156400	Transcr. at gene 5' and 3'	HSMM	muscle
8	chr5:36153200-36154600	Enhancers	Colon Smooth Muscle	Colon
9	chr5:36153200-36154800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:36153200-36155000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr5:36153200-36156400	Weak transcription	Esophagus	oesophagus
12	chr5:36153200-36157400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:36153200-36157600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr5:36153200-36158000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:36153200-36160800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:36153200-36164000	Weak transcription	Colonic Mucosa	Colon
17	chr5:36153400-36154600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:36153400-36154600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr5:36153400-36155200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:36153400-36156200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr5:36153400-36156800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:36153400-36156800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
23	chr5:36153600-36154600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:36153600-36154600	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr5:36153600-36154600	Transcr. at gene 5' and 3'	Hela-S3	cervix
26	chr5:36153600-36155200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr5:36153600-36156400	Weak transcription	Psoas Muscle	Psoas
28	chr5:36153600-36157400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr5:36153600-36159000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:36153800-36154800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:36153800-36155000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:36153800-36155000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:36153800-36155200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:36153800-36156200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:36153800-36156400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:36153800-36158400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:36153800-36159000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:36153800-36160800	Weak transcription	Gastric	stomach
39	chr5:36153800-36162600	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr5:36153800-36164000	Weak transcription	Pancreas	Pancrea
41	chr5:36153800-36184400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:36154000-36154600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:36154000-36154600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:36154000-36154600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:36154000-36154600	Enhancers	Liver	Liver
46	chr5:36154000-36154600	Genic enhancers	Brain Angular Gyrus	brain
47	chr5:36154000-36154600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:36154000-36154600	Genic enhancers	NHEK	skin
49	chr5:36154000-36155000	Genic enhancers	Placenta	Placenta
50	chr5:36154000-36155200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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