Variant report

Variant	rs17168750
Chromosome Location	chr7:129037029-129037030
allele	C/G
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	JUN	chr7:129037005-129037115	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:129035804..129037354-chr7:129066432..129068615,2	K562	blood:
2	chr7:129034255..129037206-chr7:129039482..129042017,2	MCF-7	breast:
3	chr7:129028946..129033596-chr7:129035556..129037411,4	K562	blood:
4	chr7:129028946..129031606-chr7:129035556..129037411,2	K562	blood:
5	chr7:129036993..129038803-chr7:129039358..129042901,3	MCF-7	breast:
6	chr7:129035455..129037825-chr7:129039493..129041235,2	K562	blood:

No data

Variant related genes	Relation type
AHCYL2	TF binding region
ENSG00000158467	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1000676	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10954228	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10954229	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10954230	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10954231	0.81[ASN][1000 genomes]
rs12534372	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12540568	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667132	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1541711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17168734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303304	0.83[ASN][1000 genomes]
rs34022136	0.92[ASN][1000 genomes]
rs35305688	0.80[ASN][1000 genomes]
rs35366945	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35974655	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4728162	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4728163	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4728164	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4731572	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4731573	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4731575	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9641850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9641851	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs974558	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv428508	chr7:128946738-129114691	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1015550	chr7:128992460-129111060	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv539122	chr7:128992460-129111060	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128989200-129044200	Weak transcription	Ovary	ovary
2	chr7:129006200-129046000	Weak transcription	Aorta	Aorta
3	chr7:129008400-129044200	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:129008400-129073200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:129008600-129037200	Weak transcription	Fetal Intestine Large	intestine
6	chr7:129008800-129039800	Weak transcription	Placenta	Placenta
7	chr7:129010400-129041000	Weak transcription	Esophagus	oesophagus
8	chr7:129015800-129053400	Weak transcription	Fetal Lung	lung
9	chr7:129016000-129062400	Weak transcription	Pancreas	Pancrea
10	chr7:129016000-129071400	Weak transcription	Small Intestine	intestine
11	chr7:129016400-129052400	Weak transcription	Fetal Kidney	kidney
12	chr7:129016600-129055200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:129017400-129041000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:129017400-129051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:129017400-129069200	Weak transcription	Stomach Mucosa	stomach
16	chr7:129017400-129073000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr7:129017600-129041000	Weak transcription	Hela-S3	cervix
18	chr7:129017600-129041000	Weak transcription	HMEC	breast
19	chr7:129017800-129064600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:129018400-129070000	Weak transcription	Colon Smooth Muscle	Colon
21	chr7:129019400-129070800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:129019800-129066200	Weak transcription	Thymus	Thymus
23	chr7:129020000-129064600	Weak transcription	Spleen	Spleen
24	chr7:129022000-129041200	Weak transcription	GM12878-XiMat	blood
25	chr7:129023000-129047800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr7:129023800-129039200	Weak transcription	NHEK	skin
27	chr7:129023800-129040000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:129025600-129041000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:129025600-129046200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:129025800-129042400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:129026800-129060600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr7:129027800-129044400	Weak transcription	Dnd41	blood
33	chr7:129027800-129070200	Weak transcription	HepG2	liver
34	chr7:129028400-129042000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:129028400-129063800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:129028400-129073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:129028600-129040000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:129028800-129041400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:129028800-129042600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:129028800-129044600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:129028800-129047400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:129029000-129070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:129029200-129073200	Weak transcription	Brain Angular Gyrus	brain
44	chr7:129029600-129037200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:129029600-129067400	Weak transcription	Fetal Brain Male	brain
46	chr7:129029800-129047600	Weak transcription	Brain Germinal Matrix	brain
47	chr7:129029800-129052200	Weak transcription	Fetal Brain Female	brain
48	chr7:129030000-129041200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:129030600-129041200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:129030600-129042600	Weak transcription	H1 Cell Line	embryonic stem cell

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