Variant report

Variant	rs6697783
Chromosome Location	chr1:225628260-225628261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225627461..225630460-chr1:226249522..226252499,2	K562	blood:
2	chr1:225625723..225627674-chr1:225628168..225630049,2	K562	blood:
3	chr1:225614179..225618111-chr1:225627420..225635153,13	K562	blood:
4	chr1:225588103..225590846-chr1:225628088..225629720,2	K562	blood:
5	chr1:225626720..225628379-chr1:225647904..225650755,2	K562	blood:
6	chr1:225622912..225625373-chr1:225627694..225629996,4	K562	blood:
7	chr1:225625909..225628498-chr1:225632163..225635027,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163041	Chromatin interaction
ENSG00000143815	Chromatin interaction
ENSG00000272562	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10753406	0.85[ASN][1000 genomes]
rs10799311	0.87[ASN][1000 genomes]
rs10799316	0.94[CHB][hapmap];0.83[CHD][hapmap];0.80[JPT][hapmap]
rs10799319	0.80[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap]
rs10915828	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10915830	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10915833	0.86[ASN][1000 genomes]
rs10915839	0.81[ASN][1000 genomes]
rs10915847	0.94[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap]
rs11584675	0.86[ASN][1000 genomes]
rs1222440	0.93[CHB][hapmap];0.81[CHD][hapmap];0.80[JPT][hapmap]
rs2066233	0.83[ASW][hapmap];0.95[GIH][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap]
rs2639703	0.94[CHB][hapmap];0.81[CHD][hapmap]
rs2657569	0.94[CHB][hapmap]
rs2840967	0.94[CHB][hapmap];0.81[CHD][hapmap]
rs2840968	0.94[CHB][hapmap];0.81[CHD][hapmap]
rs3820226	0.94[CHB][hapmap];0.87[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap]
rs4653637	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4653639	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4653643	0.87[CHB][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.82[LWK][hapmap];0.89[YRI][hapmap]
rs487591	0.80[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs498350	0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap]
rs554744	0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap]
rs554992	0.94[CHB][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap]
rs576861	0.94[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap]
rs6426076	0.87[ASN][1000 genomes]
rs6668770	0.82[ASN][1000 genomes]
rs6696038	0.85[CHB][hapmap]
rs6702452	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6702538	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702555	0.81[ASN][1000 genomes]
rs6751	0.94[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];0.93[YRI][hapmap]
rs712062	0.94[CHB][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap]
rs7515907	0.87[ASN][1000 genomes]
rs7515939	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541598	0.87[ASN][1000 genomes]
rs7549456	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7555553	0.87[ASN][1000 genomes]
rs947034	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6697783	ENAH	cis	normal skin	skin_eQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225619600-225629000	Weak transcription	Spleen	Spleen
2	chr1:225624400-225629000	Weak transcription	GM12878-XiMat	blood
3	chr1:225625400-225636000	Enhancers	Colon Smooth Muscle	Colon
4	chr1:225626000-225629000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:225626000-225629400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:225626000-225636200	Enhancers	Fetal Intestine Large	intestine
7	chr1:225626200-225629000	Weak transcription	Primary B cells from cord blood	blood
8	chr1:225626200-225629200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:225626200-225629200	Weak transcription	Fetal Kidney	kidney
10	chr1:225626400-225628600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:225626400-225629000	Weak transcription	Lung	lung
12	chr1:225626400-225630600	Weak transcription	Hela-S3	cervix
13	chr1:225626600-225628400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:225626600-225628800	Weak transcription	K562	blood
15	chr1:225626600-225631000	Weak transcription	Fetal Stomach	stomach
16	chr1:225626800-225628600	Weak transcription	Colonic Mucosa	Colon
17	chr1:225626800-225629000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:225626800-225629000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:225626800-225629400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:225626800-225630000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:225627000-225629800	Weak transcription	Dnd41	blood
22	chr1:225627600-225628600	Enhancers	Duodenum Mucosa	Duodenum
23	chr1:225627600-225629600	Enhancers	Fetal Intestine Small	intestine
24	chr1:225627600-225632400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:225627800-225628800	Enhancers	Liver	Liver
26	chr1:225627800-225631800	Enhancers	Stomach Mucosa	stomach
27	chr1:225627800-225632400	Enhancers	Stomach Smooth Muscle	stomach
28	chr1:225628000-225629400	Enhancers	Thymus	Thymus
29	chr1:225628000-225631400	Enhancers	Pancreas	Pancrea
30	chr1:225628000-225632400	Enhancers	Fetal Thymus	thymus
31	chr1:225628200-225628400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:225628200-225628600	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr1:225628200-225629200	Weak transcription	Gastric	stomach
34	chr1:225628200-225630200	Flanking Active TSS	HepG2	liver

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