Variant report

Variant	rs11709395
Chromosome Location	chr3:195808478-195808479
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:7254466..7255518-chr3:195808392..195809393,4	Hela-S3	cervix:
2	chr3:195752724..195755222-chr3:195806059..195808616,2	K562	blood:
3	chr3:195806486..195808572-chr3:195852578..195854905,2	MCF-7	breast:
4	chr3:195796379..195810322-chr3:195910077..195926320,43	MCF-7	breast:
5	chr3:195808089..195808909-chr7:26239810..26240342,2	Hela-S3	cervix:
6	chr17:56736181..56736876-chr3:195808423..195809101,2	Hela-S3	cervix:
7	chr10:75757392..75758317-chr3:195808427..195809368,2	Hela-S3	cervix:
8	chr3:195806834..195810300-chr3:195921968..195927592,7	MCF-7	breast:
9	chr3:195807059..195809798-chr3:196063350..196066594,3	K562	blood:
10	chr3:195807808..195810201-chr5:170814648..170817233,2	MCF-7	breast:
11	chr3:195791142..195792773-chr3:195808257..195810769,2	MCF-7	breast:
12	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
13	chr3:195805990..195808883-chr3:195933159..195936246,3	K562	blood:
14	chr15:67834545..67835150-chr3:195808441..195809425,2	Hela-S3	cervix:
15	chr3:195808373..195809995-chr3:196228997..196231632,2	K562	blood:
16	chr3:195807469..195810377-chr3:195942089..195944693,4	MCF-7	breast:
17	chr3:195781940..195789641-chr3:195805045..195810311,11	K562	blood:
18	chr3:195807091..195810537-chr3:195867675..195869638,3	MCF-7	breast:
19	chr3:195785083..195788008-chr3:195807392..195810078,3	MCF-7	breast:
20	chr3:195806658..195811369-chr3:195865432..195872361,14	MCF-7	breast:
21	chr13:92000244..92002396-chr3:195806622..195808883,2	K562	blood:
22	chr3:195806752..195808897-chr3:195887044..195888588,2	K562	blood:
23	chr19:49989753..49992423-chr3:195807241..195809770,2	MCF-7	breast:
24	chr3:195808457..195809033-chr5:43483706..43484585,2	Hela-S3	cervix:
25	chr3:195635569..195638518-chr3:195807424..195810696,3	MCF-7	breast:
26	chr12:49412487..49413124-chr3:195808419..195809056,2	Hela-S3	cervix:
27	chr3:195794950..195798022-chr3:195807553..195809899,4	MCF-7	breast:
28	chr3:195804323..195810515-chr3:195865435..195874009,30	K562	blood:
29	chr22:43011129..43011751-chr3:195808419..195809137,2	Hela-S3	cervix:
30	chr3:195790520..195792759-chr3:195806929..195809899,2	MCF-7	breast:
31	chr3:195806535..195810385-chr3:195863612..195875110,36	K562	blood:
32	chr3:195793504..195812415-chr3:195915832..195927942,46	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270964	Chromatin interaction
ENSG00000273331	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000061938	Chromatin interaction
ENSG00000145107	Chromatin interaction
ENSG00000224652	Chromatin interaction
ENSG00000035403	Chromatin interaction
ENSG00000163959	Chromatin interaction
ENSG00000222335	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000137764	Chromatin interaction
ENSG00000163958	Chromatin interaction
ENSG00000181163	Chromatin interaction
ENSG00000072274	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000213859	Chromatin interaction
ENSG00000181929	Chromatin interaction
ENSG00000142541	Chromatin interaction
ENSG00000163961	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11711014	1.00[ASN][1000 genomes]
rs17788379	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805051	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28551645	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv428102	chr3:195201080-195829426	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv428430	chr3:195201080-195829426	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
5	nsv1010395	chr3:195641908-195848264	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv1820982	chr3:195651349-195835519	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv878170	chr3:195677895-195871388	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
12	nsv1002584	chr3:195734933-195910772	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
13	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
14	nsv878172	chr3:195751853-195831098	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
15	nsv532214	chr3:195762648-195916068	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	50 gene(s)	inside rSNPs	diseases
16	nsv1002065	chr3:195769609-195877692	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
18	nsv524410	chr3:195776240-195816195	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
19	nsv461130	chr3:195776240-195907653	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
20	nsv593069	chr3:195776240-195907653	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
21	nsv1005558	chr3:195789462-195919077	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
22	nsv536890	chr3:195789462-195919077	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11709395	SDHALP2	Cis_1M	lymphoblastoid	RTeQTL
rs11709395	MUC4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195806000-195809400	Active TSS	Brain Anterior Caudate	brain
2	chr3:195806200-195809000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr3:195806200-195809800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr3:195806400-195809200	Active TSS	GM12878-XiMat	blood
5	chr3:195806600-195809400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:195806600-195809600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:195806800-195809200	Active TSS	Placenta	Placenta
8	chr3:195806800-195809400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr3:195806800-195809400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr3:195807000-195809200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr3:195807000-195809200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr3:195807000-195809200	Active TSS	Duodenum Mucosa	Duodenum
13	chr3:195807000-195809200	Active TSS	Right Ventricle	heart
14	chr3:195807000-195809400	Active TSS	A549	lung
15	chr3:195807000-195809400	Active TSS	K562	blood
16	chr3:195807000-195809600	Active TSS	Colonic Mucosa	Colon
17	chr3:195807200-195808600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr3:195807200-195809200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:195807200-195809200	Active TSS	Hela-S3	cervix
20	chr3:195807200-195809400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:195807200-195809400	Active TSS	H9 Cell Line	embryonic stem cell
22	chr3:195807200-195809400	Active TSS	Psoas Muscle	Psoas
23	chr3:195807400-195809200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr3:195807400-195809200	Active TSS	Esophagus	oesophagus
25	chr3:195807400-195809400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr3:195807400-195809400	Active TSS	Ovary	ovary
27	chr3:195807400-195809400	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr3:195807400-195809800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:195807400-195809800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr3:195807600-195808800	Bivalent/Poised TSS	HepG2	liver
31	chr3:195807600-195809200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr3:195807600-195809200	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr3:195807600-195809200	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr3:195807600-195809200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:195807600-195809200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr3:195807600-195809200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:195807600-195809200	Active TSS	Aorta	Aorta
38	chr3:195807600-195809200	Active TSS	Small Intestine	intestine
39	chr3:195807600-195809200	Active TSS	HMEC	breast
40	chr3:195807600-195809200	Active TSS	NHEK	skin
41	chr3:195807600-195809400	Active TSS	Fetal Kidney	kidney
42	chr3:195807600-195809400	Active TSS	Lung	lung
43	chr3:195807600-195809600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:195807800-195808600	Active TSS	Fetal Heart	heart
45	chr3:195807800-195808800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
46	chr3:195807800-195808800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
47	chr3:195807800-195809200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:195807800-195809200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:195807800-195809200	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr3:195807800-195809200	Active TSS	Muscle Satellite Cultured Cells	--

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