Variant report

Variant	rs34022136
Chromosome Location	chr7:129008759-129008760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129006160..129011107-chr7:129012135..129016700,5	K562	blood:
2	chr7:129008253..129010107-chr7:129078783..129081739,2	K562	blood:
3	chr7:128992325..128994144-chr7:129008256..129010083,2	K562	blood:
4	chr7:129008165..129009872-chr7:129013527..129016385,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158467	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1000676	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10954228	0.94[ASN][1000 genomes]
rs10954229	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10954230	0.98[ASN][1000 genomes]
rs10954231	0.81[ASN][1000 genomes]
rs12532192	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12534372	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12540568	0.92[ASN][1000 genomes]
rs12667132	0.98[ASN][1000 genomes]
rs12668958	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1541711	0.96[ASN][1000 genomes]
rs17168734	0.98[ASN][1000 genomes]
rs17168750	0.92[ASN][1000 genomes]
rs34284898	0.80[EUR][1000 genomes]
rs35305688	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35366945	0.92[ASN][1000 genomes]
rs35974655	0.91[ASN][1000 genomes]
rs4460315	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4728162	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4728163	0.91[ASN][1000 genomes]
rs4728164	0.90[ASN][1000 genomes]
rs4731572	0.96[ASN][1000 genomes]
rs4731573	0.89[ASN][1000 genomes]
rs4731575	0.89[ASN][1000 genomes]
rs9641850	0.96[ASN][1000 genomes]
rs9641851	0.96[ASN][1000 genomes]
rs974558	0.98[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:79 , 50 per page) page: 1 2

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	chr7:129007200-129008800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:129007200-129008800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:129007200-129009000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:129007200-129009000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:129007200-129011400	Active TSS	Rectal Smooth Muscle	rectum
8	chr7:129007400-129008800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:129007400-129008800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:129007400-129008800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:129007400-129008800	Enhancers	Fetal Lung	lung
12	chr7:129007400-129008800	Enhancers	Placenta	Placenta
13	chr7:129007400-129008800	Flanking Active TSS	GM12878-XiMat	blood
14	chr7:129007400-129008800	Flanking Active TSS	Hela-S3	cervix
15	chr7:129007600-129008800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:129007600-129008800	Enhancers	Primary B cells from cord blood	blood
17	chr7:129007600-129008800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:129007600-129008800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:129007600-129008800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:129007600-129008800	Enhancers	HUVEC	blood vessel
21	chr7:129007600-129008800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr7:129007600-129009000	Enhancers	Primary B cells from peripheral blood	blood
23	chr7:129007600-129009000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:129007800-129008800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:129007800-129009000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr7:129008000-129008800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr7:129008000-129008800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:129008000-129008800	Active TSS	Fetal Stomach	stomach
29	chr7:129008000-129008800	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr7:129008000-129008800	Active TSS	Small Intestine	intestine
31	chr7:129008000-129008800	Enhancers	K562	blood
32	chr7:129008000-129009000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr7:129008000-129009000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr7:129008000-129009000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr7:129008000-129009200	Active TSS	Colonic Mucosa	Colon
36	chr7:129008000-129016600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:129008200-129008800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:129008200-129010600	Weak transcription	Fetal Kidney	kidney
39	chr7:129008200-129010800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:129008200-129010800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr7:129008200-129011000	Active TSS	Duodenum Mucosa	Duodenum
42	chr7:129008200-129011200	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:129008200-129011400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:129008200-129035000	Weak transcription	Psoas Muscle	Psoas
45	chr7:129008400-129008800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:129008400-129008800	Enhancers	Brain Substantia Nigra	brain
47	chr7:129008400-129008800	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr7:129008400-129008800	Enhancers	Fetal Muscle Trunk	muscle
49	chr7:129008400-129008800	Active TSS	Lung	lung
50	chr7:129008400-129009000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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