Variant report

Variant	rs1987393
Chromosome Location	chr4:151238746-151238747
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr4:151237264-151240692	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:151224130..151227039-chr4:151238410..151241620,3	K562	blood:
2	chr4:151237303..151239479-chr4:151241207..151243347,2	K562	blood:
3	chr4:151234909..151237104-chr4:151238689..151240224,2	K562	blood:
4	chr4:151224665..151227039-chr4:151238362..151239910,2	K562	blood:

Variant related genes	Relation type
LRBA	TF binding region
ENSG00000198589	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1463959	1.00[EUR][1000 genomes]
rs1911519	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966052	0.82[CHD][hapmap];0.82[MEX][hapmap]
rs2102276	0.93[EUR][1000 genomes]
rs4696113	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696238	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6535734	1.00[EUR][1000 genomes]
rs6812795	0.80[MEX][hapmap]
rs6834928	0.82[CHD][hapmap]
rs7667511	0.82[CHD][hapmap];0.82[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	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv880259	chr4:151210761-151367745	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv880260	chr4:151214038-151331191	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151191400-151245200	Weak transcription	Small Intestine	intestine
2	chr4:151203800-151244400	Weak transcription	Fetal Thymus	thymus
3	chr4:151204000-151244600	Weak transcription	Lung	lung
4	chr4:151204600-151242200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:151205000-151272200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:151207600-151241600	Weak transcription	Fetal Intestine Large	intestine
7	chr4:151213400-151242200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:151221800-151259600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:151224000-151259000	Weak transcription	Ovary	ovary
10	chr4:151224200-151244800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:151224200-151274800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:151224400-151244600	Weak transcription	NHLF	lung
13	chr4:151225000-151241400	Weak transcription	GM12878-XiMat	blood
14	chr4:151226000-151249000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:151226200-151240600	Weak transcription	Fetal Kidney	kidney
16	chr4:151226600-151242400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:151226800-151272400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr4:151227400-151269400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:151227800-151248400	Weak transcription	Adipose Nuclei	Adipose
20	chr4:151228400-151243400	Weak transcription	HepG2	liver
21	chr4:151230200-151244600	Weak transcription	Spleen	Spleen
22	chr4:151230600-151243600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr4:151231600-151257800	Weak transcription	Liver	Liver
24	chr4:151232400-151240200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:151232400-151241200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:151232400-151244000	Weak transcription	HUVEC	blood vessel
27	chr4:151232400-151255200	Weak transcription	Aorta	Aorta
28	chr4:151233000-151246600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:151233400-151244600	Weak transcription	Esophagus	oesophagus
30	chr4:151233400-151264200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:151233400-151264200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:151233600-151253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:151234400-151244600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:151235200-151244600	Weak transcription	Fetal Muscle Leg	muscle
35	chr4:151235200-151249600	Weak transcription	Gastric	stomach
36	chr4:151236400-151238800	Strong transcription	Primary B cells from cord blood	blood
37	chr4:151236400-151272600	Weak transcription	Thymus	Thymus
38	chr4:151236600-151251200	Weak transcription	Colonic Mucosa	Colon
39	chr4:151236600-151259000	Weak transcription	Left Ventricle	heart
40	chr4:151236800-151241800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:151236800-151242000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:151236800-151242400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:151236800-151264200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:151237000-151239000	Enhancers	Fetal Lung	lung
45	chr4:151237200-151239800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:151237200-151239800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:151237200-151240400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr4:151237600-151239400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:151237600-151240000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:151238000-151240000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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