Variant report

Variant	rs1105046
Chromosome Location	chr8:19459789-19459790
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:19459514-19460296	A549	lung:	n/a	n/a
2	CTCF	chr8:19459720-19459870	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr8:19459666-19459895	A549	lung:	n/a	n/a
4	CTCF	chr8:19459747-19459877	Lung_OC	lung:	n/a	n/a
5	CTCF	chr8:19459680-19459830	AG10803	skin:	n/a	n/a
6	CTCF	chr8:19459680-19459830	HPF	lung:	n/a	n/a
7	RAD21	chr8:19459543-19460006	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr8:19459498-19460108	A549	lung:	n/a	n/a
9	CTBP2	chr8:19459579-19460198	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr8:19459738-19459868	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr8:19459720-19459870	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr8:19459747-19459813	MCF-7	breast:	n/a	n/a
13	SIN3A	chr8:19459633-19460176	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr8:19459651-19459856	HepG2	liver:	n/a	n/a
15	ZNF143	chr8:19459651-19459907	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr8:19459593-19459867	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr8:19459759-19459870	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr8:19459700-19459850	AG09309	skin:	n/a	n/a
19	CTCF	chr8:19459740-19459890	NB4	blood:	n/a	n/a
20	CTCF	chr8:19459700-19459850	RPTEC	kidney:	n/a	n/a
21	RAD21	chr8:19459636-19459921	A549	lung:	n/a	n/a
22	POLR2A	chr8:19459487-19460241	H1-neurons	neurons:	n/a	n/a
23	RAD21	chr8:19459605-19460027	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr8:19459628-19460006	A549	lung:	n/a	n/a
25	CTCF	chr8:19459709-19459854	K562	blood:	n/a	n/a
26	CTCF	chr8:19459780-19459930	HEK293	kidney:	n/a	n/a
27	CTCF	chr8:19459680-19459830	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr8:19459700-19459850	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr8:19459774-19459832	HepG2	liver:	n/a	n/a
30	CTCF	chr8:19459644-19459967	IMR90	lung:	n/a	n/a
31	CTCF	chr8:19459680-19459830	SAEC	small airway:	n/a	n/a
32	CTCF	chr8:19459720-19459870	WI-38	lung:	n/a	n/a
33	RAD21	chr8:19459582-19460191	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr8:19459720-19459870	AG04450	lung:	n/a	n/a
35	CTCF	chr8:19459760-19459910	AG09319	gingival:	n/a	n/a
36	RAD21	chr8:19459480-19460147	A549	lung:	n/a	n/a
37	CTCF	chr8:19459720-19459870	HBMEC	blood vessel:	n/a	n/a
38	RAD21	chr8:19459583-19460131	IMR90	lung:	n/a	n/a
39	CTCF	chr8:19459671-19459992	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:19459723-19459879	K562	blood:	n/a	n/a
41	CTCF	chr8:19459740-19459890	HVMF	connective:	n/a	n/a
42	CTCF	chr8:19459696-19459866	ProgFib	skin:	n/a	n/a
43	CTCF	chr8:19459631-19459956	A549	lung:	n/a	n/a
44	CTCF	chr8:19459731-19459855	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr8:19459740-19459890	AG09319	gingival:	n/a	n/a
46	CTCF	chr8:19459660-19459810	HPAF	blood vessel:	n/a	n/a
47	POLR2A	chr8:19459652-19459793	A549	lung:	n/a	n/a
48	CTCF	chr8:19459672-19460084	A549	lung:	n/a	n/a
49	CTCF	chr8:19459680-19459830	HCM	heart:	n/a	n/a
50	CTCF	chr8:19459720-19459870	SK-N-SH_RA	brain:	n/a	n/a

No data

Variant related genes	Relation type
CSGALNACT1	TF binding region

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13250084	0.83[EUR][1000 genomes]
rs13260856	0.84[EUR][1000 genomes]
rs13261887	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28690902	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34453606	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34632038	0.89[EUR][1000 genomes]
rs4472533	0.96[EUR][1000 genomes]
rs4574860	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4636223	0.96[EUR][1000 genomes]
rs6984585	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997538	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003381	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7828030	0.83[EUR][1000 genomes]
rs9987387	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv610756	chr8:19434021-19471977	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19445600-19461400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr8:19445600-19481400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:19448000-19459800	Weak transcription	Gastric	stomach
4	chr8:19451000-19459800	Weak transcription	Lung	lung
5	chr8:19453600-19459800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:19454200-19460800	Weak transcription	Hela-S3	cervix
7	chr8:19455800-19459800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:19456200-19479600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:19457400-19460400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr8:19457600-19460400	Active TSS	Brain Angular Gyrus	brain
11	chr8:19457600-19465000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:19457600-19472200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:19458200-19460400	Active TSS	A549	lung
14	chr8:19458400-19459800	Weak transcription	Thymus	Thymus
15	chr8:19458400-19460400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:19458600-19459800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:19458600-19460000	Active TSS	Ovary	ovary
18	chr8:19458600-19460400	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr8:19459000-19459800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr8:19459000-19460200	Active TSS	Brain Substantia Nigra	brain
21	chr8:19459200-19459800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr8:19459200-19459800	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr8:19459200-19460000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr8:19459200-19460200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:19459200-19460200	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:19459200-19460200	Active TSS	Fetal Brain Female	brain
27	chr8:19459200-19460400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:19459200-19460400	Active TSS	Psoas Muscle	Psoas
29	chr8:19459400-19459800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:19459400-19459800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:19459400-19459800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
32	chr8:19459400-19459800	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
33	chr8:19459400-19460000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:19459400-19460000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:19459400-19460000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:19459400-19460000	Active TSS	Right Atrium	heart
37	chr8:19459400-19460000	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr8:19459400-19460000	Bivalent/Poised TSS	NH-A	brain
39	chr8:19459400-19460200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr8:19459400-19460200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:19459400-19460200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:19459400-19460400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr8:19459400-19460400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr8:19459400-19460400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr8:19459400-19460400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:19459400-19460400	Active TSS	Brain Cingulate Gyrus	brain
47	chr8:19459400-19460400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr8:19459400-19460400	Active TSS	Rectal Smooth Muscle	rectum
49	chr8:19459400-19460400	Active TSS	Stomach Smooth Muscle	stomach
50	chr8:19459400-19460400	Active TSS	Monocytes-CD14+_RO01746	blood

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