Variant report

Variant	rs17775992
Chromosome Location	chr19:35820251-35820252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35819647-35826483	GM12891	blood:	n/a	n/a
2	SIN3A	chr19:35819797-35820353	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:35819682-35826512	GM12878	blood:	n/a	n/a
4	RCOR1	chr19:35819621-35820572	GM12878	blood:	n/a	n/a
5	RUNX3	chr19:35819618-35820650	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:35819671-35820840	GM12892	blood:	n/a	n/a
7	RELA	chr19:35819686-35820441	GM18505	blood:	n/a	n/a
8	POLR2A	chr19:35819721-35820763	GM18951	blood:	n/a	n/a
9	POLR2A	chr19:35819659-35823251	GM15510	blood:	n/a	n/a
10	ATF2	chr19:35819653-35820601	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:35819642-35823218	GM18505	blood:	n/a	n/a
12	POLR2A	chr19:35819666-35823196	GM19099	blood:	n/a	n/a
13	POLR2A	chr19:35819733-35826364	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:35819621-35823234	GM12892	blood:	n/a	n/a
15	NFIC	chr19:35819461-35820807	GM12878	blood:	n/a	n/a
16	BCLAF1	chr19:35819674-35821070	GM12878	blood:	n/a	n/a
17	TAF1	chr19:35819668-35820328	GM12878	blood:	n/a	n/a
18	ZEB1	chr19:35819977-35820356	GM12878	blood:	n/a	n/a
19	SPI1	chr19:35819871-35820261	GM12891	blood:	n/a	chr19:35820071-35820084
20	STAT5A	chr19:35819763-35820832	GM12878	blood:	n/a	n/a
21	EBF1	chr19:35819759-35820253	GM12878	blood:	n/a	chr19:35820051-35820062
22	POLR2A	chr19:35819559-35823266	GM12892	blood:	n/a	n/a
23	STAT1	chr19:35819615-35820272	GM12878	blood:	n/a	n/a
24	TBP	chr19:35819669-35820327	GM12878	blood:	n/a	n/a
25	PML	chr19:35819818-35820327	GM12878	blood:	n/a	n/a
26	TBL1XR1	chr19:35819726-35820548	GM12878	blood:	n/a	n/a
27	EP300	chr19:35819777-35820491	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:35819750-35822507	GM12878	blood:	n/a	n/a
29	POU2F2	chr19:35819825-35820366	GM12891	blood:	n/a	n/a
30	POLR2A	chr19:35819667-35823004	Raji	blood:	n/a	n/a
31	MAX	chr19:35819935-35820253	NB4	blood:	n/a	n/a
32	POLR2A	chr19:35819917-35820322	GM12891	blood:	n/a	n/a
33	IKZF1	chr19:35819619-35820284	GM12878	blood:	n/a	n/a
34	CEBPB	chr19:35819611-35820404	GM12878	blood:	n/a	n/a
35	RUNX3	chr19:35819571-35820350	GM12878	blood:	n/a	n/a
36	CHD2	chr19:35819694-35820576	GM12878	blood:	n/a	n/a
37	BCLAF1	chr19:35819720-35820554	GM12878	blood:	n/a	n/a
38	SPI1	chr19:35819815-35820320	HL-60	blood:	n/a	chr19:35820071-35820084
39	ELF1	chr19:35819678-35820331	GM12878	blood:	n/a	n/a
40	FOXM1	chr19:35819581-35820384	GM12878	blood:	n/a	n/a
41	EP300	chr19:35819747-35820297	GM12878	blood:	n/a	n/a
42	WRNIP1	chr19:35819717-35820628	GM12878	blood:	n/a	n/a
43	SPI1	chr19:35819611-35820401	GM12878	blood:	n/a	chr19:35820071-35820084
44	NFATC1	chr19:35819706-35820407	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:35819671-35823322	GM12892	blood:	n/a	n/a
46	MTA3	chr19:35819578-35820597	GM12878	blood:	n/a	n/a
47	POLR2A	chr19:35819725-35820774	GM19193	blood:	n/a	n/a
48	NFYB	chr19:35819698-35820472	GM12878	blood:	n/a	n/a
49	FOXM1	chr19:35819618-35820395	GM12878	blood:	n/a	n/a
50	CHD1	chr19:35819683-35820957	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35808879..35811383-chr19:35819038..35823207,3	K562	blood:
2	chr19:35758155..35760598-chr19:35818136..35820258,3	MCF-7	breast:

No data

Variant related genes	Relation type
CD22	TF binding region
ENSG00000269553	TF binding region
ENSG00000105698	Chromatin interaction
ENSG00000012124	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12979319	1.00[ASW][hapmap]
rs17719240	1.00[AFR][1000 genomes]
rs17776004	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2285449	1.00[GIH][hapmap]
rs2301598	1.00[AFR][1000 genomes]
rs58199607	1.00[AFR][1000 genomes]
rs60066162	1.00[AFR][1000 genomes]
rs60182696	1.00[AFR][1000 genomes]
rs61396797	1.00[AFR][1000 genomes]
rs62111372	1.00[AFR][1000 genomes]
rs62111403	1.00[AFR][1000 genomes]
rs73031765	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	esv1828194	chr19:35812566-35865695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35810400-35835200	Weak transcription	Fetal Lung	lung
2	chr19:35811600-35832200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:35817600-35844000	Weak transcription	Brain Angular Gyrus	brain
4	chr19:35818000-35820400	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:35818400-35820600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:35818400-35821600	Strong transcription	Brain Substantia Nigra	brain
7	chr19:35818800-35821400	Weak transcription	K562	blood
8	chr19:35818800-35823600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr19:35818800-35836600	Weak transcription	Brain Anterior Caudate	brain
10	chr19:35819400-35820600	Enhancers	Primary hematopoietic stem cells	blood
11	chr19:35819600-35820400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr19:35819600-35820600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:35819600-35820800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:35819600-35822400	Strong transcription	Brain Cingulate Gyrus	brain
15	chr19:35819600-35822800	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr19:35819600-35824600	Strong transcription	Ovary	ovary
17	chr19:35819800-35820400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr19:35819800-35820600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr19:35819800-35820600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr19:35819800-35821200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr19:35820000-35820600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:35820000-35820600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr19:35820000-35820600	Enhancers	Spleen	Spleen
24	chr19:35820000-35821000	Active TSS	Primary B cells from peripheral blood	blood
25	chr19:35820000-35823800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:35820000-35829000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr19:35820200-35820600	Active TSS	Small Intestine	intestine
28	chr19:35820200-35820800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:35820200-35820800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr19:35820200-35820800	Flanking Active TSS	GM12878-XiMat	blood

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