Variant report

Variant	rs73836211
Chromosome Location	chr4:106374951-106374952
allele	C/G/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	CHD2	chr4:106374948-106375315	GM12878	blood:	n/a	n/a
2	IRF4	chr4:106374854-106375364	GM12878	blood:	n/a	n/a
3	EBF1	chr4:106374244-106375404	GM12878	blood:	n/a	n/a
4	BATF	chr4:106374921-106375327	GM12878	blood:	n/a	chr4:106375125-106375134
5	PAX5	chr4:106374886-106375300	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:106374948-106375295	GM12878	blood:	n/a	n/a
7	BATF	chr4:106374937-106375316	GM12878	blood:	n/a	chr4:106375125-106375134
8	POLR2A	chr4:106374919-106374988	K562	blood:	n/a	n/a
9	CTCF	chr4:106374920-106375070	RPTEC	kidney:	n/a	n/a
10	EBF1	chr4:106374770-106375308	GM12878	blood:	n/a	n/a
11	PAX5	chr4:106374936-106375270	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:106068073..106070756-chr4:106374614..106376801,2	MCF-7	breast:
2	chr4:106368296..106371376-chr4:106372704..106375922,3	K562	blood:

Variant related genes	Relation type
PPA2	TF binding region
ENSG00000138777	Chromatin interaction
ENSG00000168769	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10010936	1.00[AMR][1000 genomes]
rs10021633	1.00[AMR][1000 genomes]
rs6821418	1.00[AMR][1000 genomes]
rs6843665	1.00[AMR][1000 genomes]
rs73836213	1.00[AMR][1000 genomes]
rs73836220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73836222	1.00[AMR][1000 genomes]
rs73836223	1.00[AMR][1000 genomes]
rs73836224	1.00[AMR][1000 genomes]
rs73836226	1.00[AMR][1000 genomes]
rs73837907	1.00[AMR][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	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv830027	chr4:106222010-106406738	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002228	chr4:106346206-106433381	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv2760858	chr4:106351454-106376197	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106327200-106389200	Weak transcription	Small Intestine	intestine
2	chr4:106327200-106390600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:106336800-106376400	Weak transcription	Right Ventricle	heart
4	chr4:106336800-106387800	Weak transcription	NHLF	lung
5	chr4:106340200-106387800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:106341600-106376000	Weak transcription	Fetal Heart	heart
7	chr4:106347600-106392800	Weak transcription	Colonic Mucosa	Colon
8	chr4:106347800-106375200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:106348000-106375000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:106348000-106376400	Weak transcription	Gastric	stomach
11	chr4:106348000-106376800	Weak transcription	Pancreas	Pancrea
12	chr4:106348000-106388000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr4:106348200-106387800	Weak transcription	Lung	lung
14	chr4:106348200-106393000	Weak transcription	Thymus	Thymus
15	chr4:106348400-106384200	Weak transcription	Fetal Stomach	stomach
16	chr4:106348600-106384600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:106348800-106375000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:106352200-106375000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:106355400-106378800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:106355400-106393200	Weak transcription	Esophagus	oesophagus
21	chr4:106357200-106381000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:106357200-106381000	Weak transcription	Brain Substantia Nigra	brain
23	chr4:106357200-106387600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:106357200-106392600	Weak transcription	Brain Angular Gyrus	brain
25	chr4:106357600-106392200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:106359000-106378800	Weak transcription	Fetal Intestine Small	intestine
27	chr4:106359000-106382400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:106359000-106387600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:106359200-106382200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr4:106359600-106379800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:106361200-106378000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr4:106361400-106379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:106361800-106387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:106362200-106392600	Weak transcription	A549	lung
35	chr4:106362400-106379000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:106363400-106377600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:106363800-106390200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr4:106364000-106378000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:106364400-106384200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:106364600-106378800	Weak transcription	Aorta	Aorta
41	chr4:106364600-106382800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:106364600-106392000	Weak transcription	Brain Anterior Caudate	brain
43	chr4:106364600-106392600	Weak transcription	Fetal Kidney	kidney
44	chr4:106365200-106380800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr4:106365600-106375800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:106365600-106377400	Weak transcription	HSMM	muscle
47	chr4:106365800-106387600	Weak transcription	Placenta	Placenta
48	chr4:106366000-106384600	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:106366000-106392400	Weak transcription	Osteobl	bone
50	chr4:106366000-106392600	Weak transcription	Psoas Muscle	Psoas

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