Variant report

Variant	rs11211327
Chromosome Location	chr1:47078318-47078319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47038329..47041159-chr1:47076859..47079950,3	K562	blood:
2	chr1:47076423..47078358-chr1:47078950..47080736,2	K562	blood:
3	chr1:47069986..47078443-chr1:47078833..47084050,15	K562	blood:
4	chr1:47068458..47072661-chr1:47073535..47079342,7	MCF-7	breast:
5	chr1:47048260..47050517-chr1:47077583..47079223,2	K562	blood:
6	chr1:47077660..47081751-chr1:47132686..47135354,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079277	Chromatin interaction
ENSG00000123472	Chromatin interaction
ENSG00000142961	Chromatin interaction
ENSG00000186118	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10890406	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10890407	0.86[EUR][1000 genomes]
rs10890408	0.89[EUR][1000 genomes]
rs11211319	0.87[EUR][1000 genomes]
rs11211320	0.86[EUR][1000 genomes]
rs11211323	0.87[EUR][1000 genomes]
rs11211324	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11211325	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11211326	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12022855	0.87[EUR][1000 genomes]
rs12136479	0.85[EUR][1000 genomes]
rs1258012	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35494693	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs36058295	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4660357	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4660947	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6671527	0.82[EUR][1000 genomes]
rs6687832	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6704020	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7526249	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7526328	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs942083	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs956526	0.84[EUR][1000 genomes]
rs956527	0.84[AMR][1000 genomes];0.84[EUR][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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv870392	chr1:47040676-47095097	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47070000-47078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:47070400-47081200	Weak transcription	Fetal Brain Male	brain
3	chr1:47070600-47078400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:47071000-47078400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:47071800-47079200	Weak transcription	Dnd41	blood
6	chr1:47072000-47079000	Strong transcription	Fetal Intestine Small	intestine
7	chr1:47073400-47079000	Strong transcription	Fetal Intestine Large	intestine
8	chr1:47074000-47078800	Strong transcription	NHLF	lung
9	chr1:47074200-47079000	Weak transcription	Brain Germinal Matrix	brain
10	chr1:47075000-47079800	Weak transcription	Fetal Kidney	kidney
11	chr1:47075200-47078800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:47075800-47078400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:47075800-47078800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:47075800-47078800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:47075800-47079000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:47075800-47079000	Weak transcription	Brain Angular Gyrus	brain
17	chr1:47075800-47079400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:47076000-47079000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:47076000-47079000	Weak transcription	Fetal Lung	lung
20	chr1:47076200-47078800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:47076400-47081400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:47076600-47078800	Genic enhancers	Rectal Mucosa Donor 29	rectum
23	chr1:47076600-47079000	Genic enhancers	Placenta	Placenta
24	chr1:47076800-47078600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:47076800-47078800	Genic enhancers	Spleen	Spleen
26	chr1:47076800-47079000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr1:47076800-47079000	Enhancers	Brain Hippocampus Middle	brain
28	chr1:47076800-47080400	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr1:47076800-47081800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:47077000-47078600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:47077000-47078600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:47077000-47078800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:47077000-47078800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:47077000-47078800	Genic enhancers	Duodenum Mucosa	Duodenum
35	chr1:47077000-47078800	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr1:47077000-47079000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:47077000-47079000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:47077000-47079000	Genic enhancers	Esophagus	oesophagus
39	chr1:47077000-47079000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:47077000-47079000	Genic enhancers	Fetal Muscle Leg	muscle
41	chr1:47077000-47079000	Genic enhancers	Gastric	stomach
42	chr1:47077000-47079000	Genic enhancers	Lung	lung
43	chr1:47077000-47079000	Genic enhancers	Monocytes-CD14+_RO01746	blood
44	chr1:47077000-47079200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:47077000-47079200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:47077000-47079200	Enhancers	Fetal Thymus	thymus
47	chr1:47077000-47079200	Genic enhancers	Right Ventricle	heart
48	chr1:47077000-47079400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:47077000-47081000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr1:47077000-47081000	Enhancers	Brain Anterior Caudate	brain

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