Variant report

Variant	rs7103368
Chromosome Location	chr11:108221365-108221366
allele	A/G
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	POLR2A	chr11:108221170-108221368	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108211210..108215011-chr11:108219991..108223823,4	K562	blood:
2	chr11:108220484..108223102-chr11:108223127..108224993,2	K562	blood:

Variant related genes	Relation type
ATM	TF binding region
ENSG00000149311	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17108182	1.00[EUR][1000 genomes]
rs1893996	1.00[EUR][1000 genomes]
rs1893997	1.00[EUR][1000 genomes]
rs3092837	1.00[EUR][1000 genomes]
rs4988026	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4988109	1.00[EUR][1000 genomes]
rs4988134	1.00[EUR][1000 genomes]
rs7116971	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7926603	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7945405	1.00[EUR][1000 genomes]
rs9666757	1.00[EUR][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	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:108148200-108225600	Weak transcription	Esophagus	oesophagus
4	chr11:108148600-108225600	Weak transcription	Gastric	stomach
5	chr11:108176400-108225400	Weak transcription	Right Ventricle	heart
6	chr11:108182400-108222200	Weak transcription	Pancreas	Pancrea
7	chr11:108182400-108223800	Weak transcription	Small Intestine	intestine
8	chr11:108192000-108222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:108192200-108225400	Weak transcription	Brain Angular Gyrus	brain
10	chr11:108193800-108224600	Weak transcription	Fetal Heart	heart
11	chr11:108195400-108226200	Strong transcription	Primary T cells from cord blood	blood
12	chr11:108200400-108224600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:108200600-108222000	Weak transcription	Spleen	Spleen
14	chr11:108200600-108222200	Weak transcription	Fetal Intestine Small	intestine
15	chr11:108202200-108225200	Weak transcription	Colonic Mucosa	Colon
16	chr11:108203000-108222000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:108203200-108224400	Weak transcription	Psoas Muscle	Psoas
18	chr11:108207000-108221800	Weak transcription	Lung	lung
19	chr11:108207000-108224400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:108207000-108225400	Weak transcription	Fetal Kidney	kidney
21	chr11:108207400-108224400	Weak transcription	Fetal Brain Female	brain
22	chr11:108207400-108234000	Weak transcription	NHLF	lung
23	chr11:108207600-108222000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:108207600-108222200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:108207600-108222200	Weak transcription	NH-A	brain
26	chr11:108207600-108222400	Weak transcription	Brain Substantia Nigra	brain
27	chr11:108207800-108224400	Weak transcription	HSMMtube	muscle
28	chr11:108208000-108224400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:108208000-108224800	Weak transcription	HUVEC	blood vessel
30	chr11:108208200-108225000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:108208400-108221400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:108208400-108222000	Weak transcription	Brain Germinal Matrix	brain
33	chr11:108209400-108222000	Weak transcription	Fetal Stomach	stomach
34	chr11:108209400-108225600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:108211000-108224400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:108212000-108224400	Weak transcription	K562	blood
37	chr11:108212000-108236000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:108212000-108236600	Weak transcription	Stomach Mucosa	stomach
39	chr11:108212200-108222000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:108212200-108241400	Weak transcription	Hela-S3	cervix
41	chr11:108212400-108221400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:108212400-108224400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:108212600-108222200	Weak transcription	NHEK	skin
44	chr11:108212600-108225400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:108212800-108238000	Weak transcription	HMEC	breast
46	chr11:108213000-108221400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:108213400-108227800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr11:108213400-108227800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:108213600-108227800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:108213600-108227800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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