Variant report

Variant	rs1101167
Chromosome Location	chr7:6164687-6164688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6143508..6145918-chr7:6163993..6166742,3	K562	blood:
2	chr7:6096719..6098839-chr7:6164520..6167026,2	K562	blood:
3	chr7:6145063..6147709-chr7:6164403..6167299,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000086232	Chromatin interaction
ENSG00000106346	Chromatin interaction
ENSG00000252929	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1017035	1.00[ASN][1000 genomes]
rs12702495	1.00[ASN][1000 genomes]
rs12702498	1.00[ASN][1000 genomes]
rs35776691	1.00[ASN][1000 genomes]
rs4724785	1.00[ASN][1000 genomes]
rs556718	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56242997	1.00[ASN][1000 genomes]
rs6974047	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
11	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
12	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1101167	AIMP2,EIF2AK1	cis	brain	BrainEAC

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6145600-6186000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:6145600-6186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
4	chr7:6150600-6166000	Strong transcription	HepG2	liver
5	chr7:6150600-6171400	Strong transcription	Dnd41	blood
6	chr7:6150800-6165200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:6151000-6165000	Strong transcription	Placenta	Placenta
8	chr7:6157400-6167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:6157400-6179000	Weak transcription	Fetal Brain Male	brain
10	chr7:6157400-6188400	Weak transcription	Psoas Muscle	Psoas
11	chr7:6157400-6189400	Weak transcription	Fetal Heart	heart
12	chr7:6158000-6165200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:6159000-6168200	Weak transcription	NHLF	lung
14	chr7:6159600-6178200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:6159800-6168400	Weak transcription	Small Intestine	intestine
16	chr7:6160000-6165000	ZNF genes & repeats	Fetal Stomach	stomach
17	chr7:6160600-6201800	Strong transcription	Fetal Thymus	thymus
18	chr7:6161000-6172000	Strong transcription	Primary T cells from cord blood	blood
19	chr7:6161200-6164800	Strong transcription	Fetal Lung	lung
20	chr7:6161200-6165800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:6161200-6173200	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:6161400-6165800	Strong transcription	Liver	Liver
23	chr7:6161400-6165800	Strong transcription	Fetal Brain Female	brain
24	chr7:6161400-6166400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:6161400-6169800	Weak transcription	HSMMtube	muscle
26	chr7:6161400-6171600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr7:6161400-6172000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:6161400-6172200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr7:6161400-6178200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:6161400-6180200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:6161400-6183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:6161400-6199600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:6161400-6202200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr7:6161600-6165200	Strong transcription	Fetal Muscle Trunk	muscle
35	chr7:6161600-6167800	Weak transcription	Spleen	Spleen
36	chr7:6161600-6168400	Weak transcription	Esophagus	oesophagus
37	chr7:6161600-6169800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:6161600-6179200	Weak transcription	Right Ventricle	heart
39	chr7:6161600-6185200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:6161600-6192000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:6161800-6168200	Weak transcription	NHDF-Ad	bronchial
42	chr7:6161800-6183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:6162000-6164800	Weak transcription	Primary B cells from cord blood	blood
44	chr7:6162000-6166600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:6162000-6166600	Weak transcription	HSMM	muscle
46	chr7:6162000-6167200	Weak transcription	NH-A	brain
47	chr7:6162000-6167600	Weak transcription	HUVEC	blood vessel
48	chr7:6162000-6167800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:6162000-6167800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:6162000-6168200	Weak transcription	Hela-S3	cervix

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