Variant report

Variant	rs3850943
Chromosome Location	chr11:63608203-63608204
allele	G/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63608154..63610966-chr11:64109676..64111363,2	K562	blood:
2	chr11:63579651..63582051-chr11:63608159..63610304,2	MCF-7	breast:
3	chr11:63607856..63610979-chr11:63704708..63707204,3	MCF-7	breast:
4	chr11:63607750..63611534-chr11:63627673..63634127,5	MCF-7	breast:
5	chr11:63607647..63610591-chr11:63667055..63669297,3	MCF-7	breast:
6	chr11:63605131..63609420-chr11:63682910..63687369,4	MCF-7	breast:
7	chr11:63604963..63609785-chr11:63634052..63642181,26	MCF-7	breast:
8	chr11:63603311..63612666-chr11:63664740..63679491,25	MCF-7	breast:
9	chr11:63605595..63608737-chr11:63952425..63954944,4	MCF-7	breast:
10	chr11:63606304..63609239-chr11:63647374..63650317,2	MCF-7	breast:
11	chr11:63606175..63608969-chr11:63932687..63934753,2	MCF-7	breast:
12	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
13	chr11:63607143..63610825-chr11:63931420..63934315,4	MCF-7	breast:
14	chr11:63605631..63608231-chr11:63683000..63685015,3	MCF-7	breast:
15	chr11:63603344..63615182-chr11:63634321..63647771,46	MCF-7	breast:
16	chr11:63608184..63610790-chr11:63772494..63774086,2	K562	blood:
17	chr11:63437870..63440205-chr11:63606706..63609553,2	MCF-7	breast:
18	chr11:63605094..63609854-chr11:63611414..63617957,11	K562	blood:
19	chr11:63579552..63583589-chr11:63604564..63608557,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110583	Chromatin interaction
ENSG00000184743	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000202089	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000168005	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10736731	0.85[ASN][1000 genomes]
rs10751001	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792421	0.83[ASN][1000 genomes]
rs10792422	0.90[ASN][1000 genomes]
rs10792423	0.83[ASN][1000 genomes]
rs10897452	0.95[ASN][1000 genomes]
rs10897453	0.93[ASN][1000 genomes]
rs10897454	0.90[ASN][1000 genomes]
rs10897456	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10897459	0.90[EUR][1000 genomes]
rs11231600	0.84[ASN][1000 genomes]
rs11231623	0.92[EUR][1000 genomes]
rs11231628	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11231640	0.83[ASN][1000 genomes]
rs11605500	0.85[ASN][1000 genomes]
rs12277481	0.83[ASN][1000 genomes]
rs12576275	0.90[ASN][1000 genomes]
rs12786124	0.88[EUR][1000 genomes]
rs12792726	0.96[EUR][1000 genomes]
rs1872772	0.83[ASN][1000 genomes]
rs224173	0.90[EUR][1000 genomes]
rs2318126	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3019785	0.89[EUR][1000 genomes]
rs3802941	0.85[ASN][1000 genomes]
rs449047	0.98[EUR][1000 genomes]
rs454474	0.97[EUR][1000 genomes]
rs4963433	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4980503	0.92[ASN][1000 genomes]
rs4980505	0.87[ASN][1000 genomes]
rs4980507	0.87[ASN][1000 genomes]
rs4980528	0.83[ASN][1000 genomes]
rs4980529	0.83[ASN][1000 genomes]
rs4980530	0.90[EUR][1000 genomes]
rs4980532	0.85[ASN][1000 genomes]
rs4980533	0.85[ASN][1000 genomes]
rs61604723	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61886128	0.93[EUR][1000 genomes]
rs6591825	0.83[ASN][1000 genomes]
rs7102006	0.87[ASN][1000 genomes]
rs7108375	0.85[ASN][1000 genomes]
rs7110843	0.85[ASN][1000 genomes]
rs7118913	0.85[ASN][1000 genomes]
rs7928919	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7937314	0.90[ASN][1000 genomes]
rs7939416	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7944519	0.93[ASN][1000 genomes]
rs7948656	0.95[ASN][1000 genomes]
rs923247	0.87[ASN][1000 genomes]
rs928948	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr11:63605800-63608400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:63605800-63608600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:63606000-63608400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:63606000-63608400	Active TSS	Fetal Intestine Large	intestine
5	chr11:63606000-63608600	Active TSS	Fetal Intestine Small	intestine
6	chr11:63606000-63608800	Active TSS	GM12878-XiMat	blood
7	chr11:63606400-63608400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:63606400-63608400	Active TSS	Ovary	ovary
9	chr11:63606400-63608400	Active TSS	Small Intestine	intestine
10	chr11:63606600-63608600	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr11:63606600-63608800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:63607000-63608400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr11:63607000-63608800	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr11:63607000-63609000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:63607000-63609000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:63607000-63609200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr11:63607000-63609200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr11:63607000-63609400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr11:63607000-63609800	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr11:63607200-63608400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:63607200-63608400	Flanking Active TSS	Fetal Brain Male	brain
22	chr11:63607200-63608400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr11:63607200-63608600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:63607200-63609000	Flanking Active TSS	Liver	Liver
25	chr11:63607200-63609000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr11:63607200-63609200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr11:63607200-63609200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr11:63607200-63609200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr11:63607200-63609600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:63607400-63608400	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr11:63607400-63608400	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr11:63607400-63608600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:63607400-63608600	Flanking Active TSS	Psoas Muscle	Psoas
34	chr11:63607400-63608800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr11:63607400-63608800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr11:63607400-63609200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:63607400-63609400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:63607400-63609400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr11:63607400-63609400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr11:63607400-63609400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr11:63607400-63609400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr11:63607400-63609400	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr11:63607400-63609400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr11:63607400-63609400	Flanking Active TSS	HUVEC	blood vessel
45	chr11:63607400-63609600	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr11:63607400-63609600	Flanking Active TSS	Fetal Brain Female	brain
47	chr11:63607600-63608400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:63607600-63608400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:63607600-63608400	Flanking Active TSS	Right Atrium	heart
50	chr11:63607600-63608400	Flanking Active TSS	Right Ventricle	heart

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