Variant report

Variant	rs6696040
Chromosome Location	chr1:70670312-70670313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr1:70670079-70672120	H1-neurons	neurons:	n/a	n/a
2	MXI1	chr1:70670192-70670332	GM12878	blood:	n/a	n/a
3	MXI1	chr1:70670193-70672254	SK-N-SH	brain:	n/a	n/a
4	RCOR1	chr1:70670299-70671838	K562	blood:	n/a	n/a
5	MAZ	chr1:70670198-70672191	IMR90	lung:	n/a	n/a
6	JUN	chr1:70670178-70672542	K562	blood:	n/a	chr1:70670893-70670902
7	CEBPB	chr1:70670190-70670456	HepG2	liver:	n/a	n/a
8	JUN	chr1:70670180-70670383	K562	blood:	n/a	n/a
9	RCOR1	chr1:70670287-70671850	K562	blood:	n/a	n/a
10	TBL1XR1	chr1:70670162-70671877	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:70670191..70673421-chr1:70819814..70822311,3	K562	blood:
2	chr1:70668667..70673217-chr1:70684547..70688689,8	K562	blood:
3	chr1:70661362..70665473-chr1:70669237..70671298,4	K562	blood:
4	chr1:70669434..70671203-chr1:70686815..70688649,2	MCF-7	breast:
5	chr1:70667153..70674800-chr1:70681943..70693478,26	K562	blood:
6	chr1:70669751..70673129-chr1:70685079..70688457,4	MCF-7	breast:

No data

Variant related genes	Relation type
SRSF11	TF binding region
ENSG00000228988	Chromatin interaction
ENSG00000118454	Chromatin interaction
ENSG00000116754	Chromatin interaction
ENSG00000197568	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1009125	0.83[CEU][hapmap]
rs10157062	0.84[ASN][1000 genomes]
rs10493469	0.83[CEU][hapmap]
rs10493470	0.83[CEU][hapmap]
rs10493471	0.83[CEU][hapmap]
rs10493472	0.83[CEU][hapmap]
rs11799572	0.82[CEU][hapmap]
rs11810721	0.83[CEU][hapmap]
rs1353467	0.91[CEU][hapmap]
rs1590724	0.83[CEU][hapmap]
rs17131177	0.91[CEU][hapmap]
rs17131182	0.83[CEU][hapmap]
rs17131183	0.83[CEU][hapmap]
rs17131186	0.91[CEU][hapmap]
rs17131190	0.83[CEU][hapmap]
rs17131191	0.83[CEU][hapmap]
rs17131193	0.83[CEU][hapmap]
rs17131196	0.91[CEU][hapmap];0.85[LWK][hapmap]
rs17131201	0.91[CEU][hapmap]
rs17131204	0.83[CEU][hapmap]
rs17131207	0.90[CEU][hapmap]
rs17131208	0.83[CEU][hapmap]
rs17131212	0.91[CEU][hapmap]
rs17131215	0.83[CEU][hapmap]
rs17131217	0.91[CEU][hapmap];0.90[GIH][hapmap]
rs17131218	0.83[CEU][hapmap]
rs17131223	0.83[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17357463	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2031710	0.83[CEU][hapmap]
rs2101889	0.83[CEU][hapmap]
rs2220959	0.83[CEU][hapmap]
rs28537484	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3738119	0.91[CEU][hapmap];0.87[GIH][hapmap]
rs3767209	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3767210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3767211	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs41287888	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4650019	0.91[CEU][hapmap]
rs4650020	0.83[CEU][hapmap]
rs4650026	0.83[CEU][hapmap]
rs487613	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55634563	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55782523	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55970826	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56200611	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56297507	0.92[EUR][1000 genomes]
rs61784315	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61784317	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61784318	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs61784319	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61784320	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61785271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61785280	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61785281	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61785283	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61785284	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61785285	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61785288	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6678316	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6679805	0.90[CEU][hapmap]
rs6690627	0.83[CEU][hapmap]
rs6694380	0.83[CEU][hapmap]
rs724681	0.91[CEU][hapmap]
rs7413084	0.83[CEU][hapmap]
rs7511650	0.91[CEU][hapmap]
rs7518536	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7521532	0.83[CEU][hapmap]
rs7552694	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.87[EUR][1000 genomes]
rs7553993	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9970462	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9970998	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3363438	chr1:70655980-70675467	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70607000-70670400	Weak transcription	Small Intestine	intestine
2	chr1:70611200-70670400	Weak transcription	Pancreas	Pancrea
3	chr1:70615000-70670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:70634000-70670400	Weak transcription	Lung	lung
5	chr1:70635000-70670600	Weak transcription	Aorta	Aorta
6	chr1:70649600-70670400	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:70650000-70670400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:70650200-70670400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:70651800-70670400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr1:70667800-70670400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:70668400-70670400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:70668400-70670400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:70668600-70670400	Enhancers	Primary B cells from cord blood	blood
14	chr1:70668600-70670600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:70668600-70670600	Flanking Active TSS	Dnd41	blood
16	chr1:70668800-70670400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:70668800-70670400	Weak transcription	Gastric	stomach
18	chr1:70668800-70670400	Weak transcription	Spleen	Spleen
19	chr1:70668800-70670800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:70669000-70670400	Enhancers	Colon Smooth Muscle	Colon
21	chr1:70669200-70670400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:70669200-70670400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:70669200-70670400	Weak transcription	Left Ventricle	heart
24	chr1:70669200-70670400	Weak transcription	Ovary	ovary
25	chr1:70669200-70670600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:70669200-70673000	Active TSS	K562	blood
27	chr1:70669400-70670400	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:70669400-70672800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:70669400-70672800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr1:70669600-70670400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:70669600-70670400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:70669600-70670400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:70669600-70670400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:70669600-70670600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:70669600-70670600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr1:70669600-70670600	Flanking Active TSS	Fetal Brain Female	brain
37	chr1:70669600-70670600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr1:70669600-70670600	Enhancers	Stomach Mucosa	stomach
39	chr1:70669600-70671000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:70669600-70672200	Active TSS	Brain Cingulate Gyrus	brain
41	chr1:70669600-70672600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr1:70669600-70672600	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr1:70669600-70672600	Active TSS	NHDF-Ad	bronchial
44	chr1:70669600-70672800	Active TSS	GM12878-XiMat	blood
45	chr1:70669800-70670400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:70669800-70670400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr1:70669800-70670400	Weak transcription	Fetal Intestine Small	intestine
48	chr1:70669800-70670400	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr1:70669800-70670400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr1:70669800-70670600	Enhancers	Primary monocytes fromperipheralblood	blood

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