Variant report

Variant	rs34388330
Chromosome Location	chr7:127223732-127223733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:127223511-127226381	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127203098..127205037-chr7:127222496..127224357,2	MCF-7	breast:
2	chr7:127030414..127032802-chr7:127220953..127224227,3	K562	blood:
3	chr7:127210811..127213532-chr7:127222493..127224995,2	K562	blood:
4	chr7:127193697..127196034-chr7:127222065..127224629,3	K562	blood:
5	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
6	chr7:127222868..127230871-chr7:127290370..127294912,16	K562	blood:

No data

Variant related genes	Relation type
ARF5	TF binding region
ENSG00000048405	Chromatin interaction
ENSG00000197157	Chromatin interaction
ENSG00000240790	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10487484	0.85[ASN][1000 genomes]
rs10487494	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536698	1.00[ASN][1000 genomes]
rs12706803	0.92[ASN][1000 genomes]
rs13227138	0.85[ASN][1000 genomes]
rs13235029	0.92[ASN][1000 genomes]
rs13244426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247976	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13309235	0.85[ASN][1000 genomes]
rs1419408	0.86[ASN][1000 genomes]
rs17660187	0.85[ASN][1000 genomes]
rs17662800	0.82[ASN][1000 genomes]
rs17730185	0.82[ASN][1000 genomes]
rs17730294	0.82[ASN][1000 genomes]
rs33973710	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34121113	0.92[ASN][1000 genomes]
rs34188289	0.82[ASN][1000 genomes]
rs34195583	0.92[ASN][1000 genomes]
rs34211107	1.00[ASN][1000 genomes]
rs34365152	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34599926	0.96[ASN][1000 genomes]
rs34814259	0.92[ASN][1000 genomes]
rs34844752	0.82[ASN][1000 genomes]
rs34881339	0.85[ASN][1000 genomes]
rs35120956	0.82[ASN][1000 genomes]
rs35144279	0.92[ASN][1000 genomes]
rs35528098	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35640048	0.82[ASN][1000 genomes]
rs35872516	0.82[ASN][1000 genomes]
rs36046498	0.82[ASN][1000 genomes]
rs3752619	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808111	0.82[ASN][1000 genomes]
rs58451280	0.82[ASN][1000 genomes]
rs62468943	1.00[ASN][1000 genomes]
rs62481380	0.82[ASN][1000 genomes]
rs62481384	0.82[ASN][1000 genomes]
rs62483172	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957054	0.92[ASN][1000 genomes]
rs6964793	1.00[ASN][1000 genomes]
rs746238	0.82[ASN][1000 genomes]
rs7808161	0.82[ASN][1000 genomes]
rs7811506	0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127218200-127223800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:127220200-127224200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
3	chr7:127220800-127223800	Genic enhancers	Brain Cingulate Gyrus	brain
4	chr7:127220800-127224000	Genic enhancers	Fetal Stomach	stomach
5	chr7:127221000-127223800	Genic enhancers	Dnd41	blood
6	chr7:127221000-127224000	Genic enhancers	Placenta	Placenta
7	chr7:127221000-127224200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr7:127221000-127224200	Enhancers	Fetal Heart	heart
9	chr7:127221200-127223800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:127221200-127223800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:127221200-127224200	Genic enhancers	Gastric	stomach
12	chr7:127221400-127223800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:127221400-127223800	Genic enhancers	Brain Hippocampus Middle	brain
14	chr7:127221400-127223800	Strong transcription	Fetal Intestine Small	intestine
15	chr7:127221400-127223800	Enhancers	Right Atrium	heart
16	chr7:127221400-127224000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:127221600-127223800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:127221600-127223800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:127221800-127223800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:127221800-127224400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
21	chr7:127222000-127223800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:127222000-127223800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:127222000-127223800	Enhancers	Fetal Brain Male	brain
24	chr7:127222000-127223800	Genic enhancers	Thymus	Thymus
25	chr7:127222000-127224000	Genic enhancers	Fetal Muscle Leg	muscle
26	chr7:127222000-127224000	Genic enhancers	Ovary	ovary
27	chr7:127222000-127224000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
28	chr7:127222000-127224200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr7:127222200-127223800	Weak transcription	Fetal Kidney	kidney
30	chr7:127222200-127224000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
31	chr7:127222200-127224200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:127222200-127224200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:127222400-127224000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:127222600-127223800	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:127222800-127223800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:127222800-127223800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:127222800-127223800	Enhancers	Stomach Mucosa	stomach
38	chr7:127222800-127223800	Genic enhancers	Hela-S3	cervix
39	chr7:127222800-127224000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:127223000-127223800	Genic enhancers	Adipose Nuclei	Adipose
41	chr7:127223000-127223800	Weak transcription	Psoas Muscle	Psoas
42	chr7:127223000-127224000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:127223000-127224000	Enhancers	NH-A	brain
44	chr7:127223000-127224800	Enhancers	Small Intestine	intestine
45	chr7:127223200-127223800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr7:127223200-127223800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr7:127223200-127223800	Weak transcription	HSMMtube	muscle
48	chr7:127223200-127224000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:127223200-127224000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:127223200-127224000	Weak transcription	Placenta Amnion	Placenta Amnion

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