Variant report

Variant	rs41229
Chromosome Location	chr14:71823388-71823389
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:71786731..71789364-chr14:71821849..71823706,2	MCF-7	breast:
2	chr14:71815345..71818974-chr14:71820775..71823679,4	K562	blood:

Variant related genes	Relation type
ENSG00000259146	Chromatin interaction
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10130652	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12878009	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12897119	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs193440	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs193441	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193442	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs193443	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2041330	0.85[EUR][1000 genomes]
rs2108048	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3088206	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36528	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36532	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36535	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41217	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41218	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41219	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41224	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41225	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs41227	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4464023	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7153726	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7154208	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7154602	0.80[EUR][1000 genomes]
rs8007271	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8007521	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8016217	0.89[EUR][1000 genomes]
rs8023058	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs917391	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71805400-71828600	Weak transcription	Dnd41	blood
2	chr14:71806600-71838400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:71808400-71829800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:71808800-71838600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:71812200-71838800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:71813400-71829000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:71816200-71827800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:71816600-71826800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:71819000-71825400	Weak transcription	Thymus	Thymus
10	chr14:71820000-71833600	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:71820200-71838600	Weak transcription	Hela-S3	cervix
12	chr14:71820400-71824200	Weak transcription	Spleen	Spleen
13	chr14:71820400-71825600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:71820600-71838800	Weak transcription	Primary T cells from cord blood	blood
15	chr14:71821600-71823400	Enhancers	Adipose Nuclei	Adipose
16	chr14:71821600-71823400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:71821600-71823400	Enhancers	Ovary	ovary
18	chr14:71821600-71824600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:71821600-71826000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:71821800-71823400	Enhancers	Primary hematopoietic stem cells	blood
21	chr14:71821800-71828600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:71822000-71828400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:71822400-71824400	Enhancers	Fetal Heart	heart
24	chr14:71822400-71825200	Enhancers	Stomach Smooth Muscle	stomach
25	chr14:71822400-71829600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:71822600-71823400	Enhancers	Aorta	Aorta
27	chr14:71822600-71823400	Enhancers	Fetal Muscle Leg	muscle
28	chr14:71822600-71823800	Enhancers	Colon Smooth Muscle	Colon
29	chr14:71822600-71828400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr14:71822800-71823600	Enhancers	Fetal Lung	lung
31	chr14:71822800-71823600	Enhancers	K562	blood
32	chr14:71822800-71824000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:71822800-71825600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr14:71822800-71826400	Weak transcription	Stomach Mucosa	stomach
35	chr14:71822800-71826600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr14:71822800-71826600	Weak transcription	Fetal Intestine Large	intestine
37	chr14:71822800-71826600	Weak transcription	Small Intestine	intestine
38	chr14:71822800-71827200	Enhancers	Primary B cells from cord blood	blood
39	chr14:71822800-71828000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr14:71822800-71828000	Weak transcription	NH-A	brain
41	chr14:71822800-71828200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:71822800-71828200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:71822800-71828800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:71822800-71830000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr14:71822800-71830000	Weak transcription	HSMM	muscle
46	chr14:71822800-71830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:71823000-71823400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:71823000-71823600	Enhancers	GM12878-XiMat	blood
49	chr14:71823000-71823800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:71823000-71824200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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