Variant report

Variant	rs11256685
Chromosome Location	chr10:6135650-6135651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:6135633-6135683	GM12878	blood:	n/a
2	chr10:6135633-6135683	U87	brain:	n/a
3	chr10:6135633-6135683	LNCaP	prostate:	n/a
4	chr10:6135633-6135683	MCF-7	breast:	n/a
5	chr10:6135633-6135683	NH-A	brain:	n/a
6	chr10:6135633-6135683	PrEC	prostate:	n/a
7	chr10:6135633-6135683	HL-60	blood:	n/a
8	chr10:6135633-6135683	HRE	kidney:	n/a
9	chr10:6135633-6135683	HNPCEpiC	eye:	n/a
10	chr10:6135633-6135683	NHBE	bronchial:	n/a
11	chr10:6135633-6135683	GM06990	blood:	n/a
12	chr10:6135633-6135683	MCF10A-Er-Src	breast:	n/a
13	chr10:6135633-6135683	HCM	heart:	n/a
14	chr10:6135633-6135683	SK-N-MC	brain:	n/a
15	chr10:6135633-6135683	GM12891	blood:	n/a
16	chr10:6135633-6135683	RPTEC	kidney:	n/a
17	chr10:6135633-6135683	Hela-S3	cervix:	n/a
18	chr10:6135633-6135683	HCPEpiC	choroid plexus:	n/a
19	chr10:6135633-6135683	HEK293	kidney:	embryo
20	chr10:6135633-6135683	SKMC	muscle:	n/a
21	chr10:6135633-6135683	HRCEpiC	kidney:	n/a
22	chr10:6135633-6135683	HAEpiC	amniotic membrane:	n/a
23	chr10:6135633-6135683	AG10803	skin:	n/a
24	chr10:6135633-6135683	CMK	blood:	n/a
25	chr10:6135633-6135683	AG09319	gingival:	n/a
26	chr10:6135633-6135683	Caco-2	colon:	n/a
27	chr10:6135633-6135683	NHDF-neo	bronchial:	n/a
28	chr10:6135633-6135683	Hepatocyte	liver:	n/a
29	chr10:6135633-6135683	AG09309	skin:	n/a
30	chr10:6135633-6135683	HCF	heart:	n/a
31	chr10:6135633-6135683	HMEC	breast:	n/a
32	chr10:6135633-6135683	HIPEpiC	eye:	n/a
33	chr10:6135633-6135683	T-47D	breast:	n/a
34	chr10:6135633-6135683	GM19239	blood:	n/a
35	chr10:6135633-6135683	PANC-1	pancreas:	n/a
36	chr10:6135633-6135683	A549	lung:	n/a
37	chr10:6135633-6135683	ECC-1	luminal epithelium:	n/a
38	chr10:6135633-6135683	ovcar-3	ovarian:	n/a
39	chr10:6135633-6135683	NT2-D1	testis:	n/a
40	chr10:6135633-6135683	AG04450	lung:	fetal
41	chr10:6135633-6135683	SK-N-SH	brain:	n/a
42	chr10:6135633-6135683	PFSK-1	brain:	n/a
43	chr10:6135633-6135683	ProgFib	skin:	n/a
44	chr10:6135633-6135683	AoSMC	blood vessel:	n/a
45	chr10:6135633-6135683	BJ	skin:	n/a
46	chr10:6135633-6135683	NB4	blood:	n/a
47	chr10:6135633-6135683	SAEC	small airway:	n/a
48	chr10:6135633-6135683	IMR90	lung:	fetal
49	chr10:6135633-6135683	HRPEpiC	eye:	n/a
50	chr10:6135633-6135683	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr10:6099232..6101720-chr10:6133496..6135887,2	K562	blood:
2	chr10:6081523..6083150-chr10:6133461..6135745,2	K562	blood:
3	chr10:6130789..6132928-chr10:6134999..6139816,5	MCF-7	breast:
4	chr10:6135493..6137735-chr10:6209780..6211467,2	K562	blood:
5	chr10:6134145..6135760-chr10:6141519..6143845,2	MCF-7	breast:

No data

Variant related genes	Relation type
RBM17	CpG island
ENSG00000134453	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10905861	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11256626	0.88[ASN][1000 genomes]
rs11256664	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11256761	1.00[ASN][1000 genomes]
rs11256763	0.92[ASN][1000 genomes]
rs11256801	1.00[ASN][1000 genomes]
rs11256810	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11256854	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11256893	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11256895	0.84[ASN][1000 genomes]
rs12252274	1.00[ASN][1000 genomes]
rs12254328	0.96[ASN][1000 genomes]
rs12262454	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12263912	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12264240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12412910	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12416306	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416514	0.80[AMR][1000 genomes]
rs13376791	0.80[AMR][1000 genomes]
rs3750669	0.89[ASN][1000 genomes]
rs58138632	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59330649	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60859211	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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	76 gene(s)	inside rSNPs	diseases
3	nsv894815	chr10:6108439-6161781	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1040397	chr10:6129759-6158697	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr10:6132200-6135800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr10:6132200-6138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:6132200-6139200	Weak transcription	Gastric	stomach
4	chr10:6132400-6139000	Weak transcription	Esophagus	oesophagus
5	chr10:6132400-6139200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr10:6132400-6139200	Weak transcription	Aorta	Aorta
7	chr10:6132400-6139600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr10:6132600-6137600	Weak transcription	HSMM	muscle
9	chr10:6132600-6138600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr10:6132600-6139000	Weak transcription	Colonic Mucosa	Colon
11	chr10:6132600-6139200	Weak transcription	Pancreas	Pancrea
12	chr10:6132800-6135800	Enhancers	Primary hematopoietic stem cells	blood
13	chr10:6132800-6135800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:6132800-6135800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:6132800-6137600	Weak transcription	Osteobl	bone
16	chr10:6132800-6137800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:6132800-6137800	Weak transcription	NHDF-Ad	bronchial
18	chr10:6132800-6137800	Weak transcription	NHLF	lung
19	chr10:6132800-6138000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:6132800-6138800	Weak transcription	Placenta	Placenta
21	chr10:6132800-6139200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr10:6132800-6139400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr10:6132800-6139600	Weak transcription	NH-A	brain
24	chr10:6132800-6143200	Weak transcription	HSMMtube	muscle
25	chr10:6132800-6145600	Weak transcription	Fetal Kidney	kidney
26	chr10:6132800-6150400	Weak transcription	Stomach Mucosa	stomach
27	chr10:6132800-6152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:6133200-6137400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:6133400-6137000	Weak transcription	Right Ventricle	heart
30	chr10:6133400-6137200	Weak transcription	Fetal Muscle Leg	muscle
31	chr10:6133400-6137400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:6133400-6137400	Weak transcription	Spleen	Spleen
33	chr10:6133400-6137600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr10:6133400-6137600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr10:6133400-6137800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr10:6133400-6138000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr10:6133400-6139000	Weak transcription	Fetal Intestine Large	intestine
38	chr10:6133400-6139200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:6133600-6137000	Weak transcription	Fetal Stomach	stomach
40	chr10:6133600-6138200	Enhancers	Adipose Nuclei	Adipose
41	chr10:6133800-6136800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr10:6133800-6137400	Weak transcription	Right Atrium	heart
43	chr10:6133800-6137600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr10:6133800-6137600	Weak transcription	Fetal Brain Male	brain
45	chr10:6133800-6139000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:6133800-6139000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr10:6133800-6139000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:6133800-6139400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr10:6133800-6139600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:6133800-6149000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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