Variant report

Variant	rs732135
Chromosome Location	chr19:39141974-39141975
allele	C/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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39138022..39142840-chr19:39322070..39325450,5	MCF-7	breast:
2	chr19:39141235..39143219-chr19:39170803..39172948,2	K562	blood:
3	chr19:39141347..39144030-chr19:39208371..39211834,3	MCF-7	breast:
4	chr19:39109194..39111209-chr19:39140540..39143105,2	MCF-7	breast:
5	chr19:39135966..39142009-chr19:39184894..39201240,23	MCF-7	breast:
6	chr19:39140809..39143009-chr19:39198249..39199895,2	MCF-7	breast:
7	chr19:39141727..39145361-chr19:39153035..39156463,3	K562	blood:
8	chr19:39137047..39143767-chr19:39341076..39344906,12	MCF-7	breast:
9	chr19:39141654..39143815-chr19:39327217..39328958,2	MCF-7	breast:
10	chr19:39138189..39142372-chr19:39210085..39214804,5	MCF-7	breast:
11	chr19:39138420..39142103-chr19:39224990..39229224,5	MCF-7	breast:
12	chr19:39136970..39140096-chr19:39140173..39145438,10	MCF-7	breast:
13	chr19:39140411..39144509-chr19:39172304..39176724,4	K562	blood:
14	chr19:39140553..39142565-chr19:39169330..39171049,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130402	Chromatin interaction
ENSG00000267892	Chromatin interaction
ENSG00000182472	Chromatin interaction
ENSG00000104823	Chromatin interaction
ENSG00000178982	Chromatin interaction
ENSG00000104814	Chromatin interaction
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12971309	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs12972987	0.86[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap]
rs12972997	0.85[CEU][hapmap]
rs12975256	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs12977238	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12977599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12978715	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12978914	0.86[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs12981984	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs12983010	0.86[CEU][hapmap]
rs12986337	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs17589359	0.86[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap]
rs17708009	1.00[YRI][hapmap]
rs2126970	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs2228068	1.00[YRI][hapmap]
rs2232997	1.00[ASW][hapmap];0.88[GIH][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs2279146	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs2287728	0.86[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap]
rs2368524	0.88[CHD][hapmap]
rs34083318	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34525537	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34558140	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34695688	0.87[ASN][1000 genomes]
rs34862518	0.81[AFR][1000 genomes]
rs35193699	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35488280	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35691365	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3786840	0.86[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[MKK][hapmap]
rs4491650	1.00[CHD][hapmap]
rs62121763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62121764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62121811	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62121819	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62121821	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7246368	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7260070	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8103530	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8105055	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs8105069	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs8105080	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs8105216	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs8105550	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs899199	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs973009	0.88[CHD][hapmap];0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv1057901	chr19:39112486-39174332	Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
7	nsv911667	chr19:39119898-39143289	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs732135	EIF3K	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39138200-39142600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr19:39138400-39142200	Active TSS	Aorta	Aorta
3	chr19:39138600-39152200	Transcr. at gene 5' and 3'	A549	lung
4	chr19:39138800-39142000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr19:39138800-39143800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr19:39139400-39142200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr19:39139600-39143400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
8	chr19:39139800-39143600	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr19:39140000-39142200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr19:39140000-39143400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:39140200-39142000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:39140200-39142000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr19:39140200-39142000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
14	chr19:39140200-39142000	Flanking Active TSS	Left Ventricle	heart
15	chr19:39140400-39142200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:39140400-39142200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr19:39140400-39142200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr19:39140400-39142200	Flanking Active TSS	Stomach Smooth Muscle	stomach
19	chr19:39140400-39142200	Flanking Active TSS	Osteobl	bone
20	chr19:39140400-39142400	Flanking Active TSS	HUVEC	blood vessel
21	chr19:39140400-39146800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:39140600-39142600	Flanking Active TSS	Hela-S3	cervix
23	chr19:39140600-39143400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:39140600-39151000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr19:39140800-39142000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:39140800-39142000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:39140800-39142000	Flanking Active TSS	Right Atrium	heart
28	chr19:39140800-39142200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr19:39140800-39142400	Flanking Active TSS	NH-A	brain
30	chr19:39140800-39142800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr19:39140800-39143400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:39140800-39145200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr19:39141000-39142000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:39141000-39142000	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr19:39141000-39142000	Flanking Active TSS	Right Ventricle	heart
36	chr19:39141000-39142000	Flanking Active TSS	NHLF	lung
37	chr19:39141000-39142200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr19:39141000-39142200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:39141000-39142400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr19:39141000-39144000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:39141200-39142000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr19:39141200-39142000	Flanking Active TSS	HMEC	breast
43	chr19:39141200-39142200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr19:39141200-39142200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr19:39141200-39142200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
46	chr19:39141200-39143000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr19:39141200-39143000	Enhancers	Brain Hippocampus Middle	brain
48	chr19:39141200-39143200	Enhancers	Brain Germinal Matrix	brain
49	chr19:39141200-39143400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr19:39141200-39143600	Enhancers	Primary T helper cells PMA-I stimulated	--

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