Variant report

Variant	rs57778283
Chromosome Location	chr11:17411585-17411586
allele	C/T
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	BHLHE40	chr11:17411578-17411679	K562	blood:	n/a	n/a
2	HA-E2F1	chr11:17411070-17411624	MCF-7	breast:	n/a	n/a
3	YY1	chr11:17410981-17411904	H1-hESC	embryonic stem cell:	n/a	chr11:17411820-17411842 chr11:17411823-17411831 chr11:17411820-17411830 chr11:17411148-17411159 chr11:17411126-17411135 chr11:17411818-17411837
4	CTCF	chr11:17410055-17411834	SK-N-SH	brain:	n/a	chr11:17410902-17410915 chr11:17410902-17410911 chr11:17410899-17410917 chr11:17410900-17410916
5	E2F6	chr11:17410098-17411860	H1-hESC	embryonic stem cell:	n/a	chr11:17410936-17410945 chr11:17410858-17410870
6	POLR2A	chr11:17410456-17411801	Raji	blood:	n/a	n/a
7	RAD21	chr11:17411584-17411624	H1-hESC	embryonic stem cell:	n/a	n/a
8	SMC3	chr11:17410368-17411600	SK-N-SH	brain:	n/a	chr11:17410901-17410915 chr11:17410933-17410943
9	MAX	chr11:17410218-17411798	MCF-7	breast:	n/a	n/a
10	SP1	chr11:17410620-17411631	HCT-116	colon:	n/a	chr11:17410937-17410946 chr11:17410936-17410945 chr11:17410935-17410947 chr11:17410936-17410946 chr11:17410937-17410946 chr11:17411150-17411159 chr11:17410932-17410946 chr11:17411148-17411159 chr11:17410935-17410947 chr11:17410936-17410946
11	SP1	chr11:17410557-17411614	HCT-116	colon:	n/a	chr11:17410937-17410946 chr11:17410936-17410945 chr11:17410935-17410947 chr11:17410936-17410946 chr11:17410937-17410946 chr11:17411150-17411159 chr11:17410932-17410946 chr11:17411148-17411159 chr11:17410935-17410947 chr11:17410936-17410946

No.	Distal block	Cell Line	Cell type
1	chr11:17373205..17377100-chr11:17409140..17413152,4	K562	blood:
2	chr11:17411217..17412789-chr11:17465893..17468748,2	MCF-7	breast:
3	chr11:17407664..17411994-chr11:17495609..17498712,4	MCF-7	breast:
4	chr11:17405950..17408117-chr11:17411030..17412540,2	K562	blood:
5	chr11:17409155..17411686-chr11:17415958..17417919,2	MCF-7	breast:
6	chr11:17411046..17413083-chr11:17494986..17496697,2	K562	blood:

Variant related genes	Relation type
KCNJ11	TF binding region
ENSG00000006071	Chromatin interaction
ENSG00000188211	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16934019	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16934040	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57988393	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59387171	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60748921	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61138172	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7112244	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv897018	chr11:17403639-17417337	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv540951	chr11:17404438-17422755	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv540952	chr11:17407913-17422755	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17405200-17412000	Enhancers	Fetal Brain Male	brain
2	chr11:17409600-17411800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:17410000-17411600	Active TSS	Fetal Brain Female	brain
4	chr11:17410200-17411600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:17410200-17411600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:17410200-17411600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:17410200-17411600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:17410200-17411800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:17410400-17411600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:17410400-17411600	Active TSS	A549	lung
11	chr11:17410400-17411800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:17410400-17411800	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr11:17410400-17411800	Active TSS	Brain Germinal Matrix	brain
14	chr11:17410600-17411600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:17410600-17411600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:17410600-17411600	Active TSS	Colonic Mucosa	Colon
17	chr11:17410600-17411600	Active TSS	Right Ventricle	heart
18	chr11:17410600-17411600	Weak transcription	Stomach Mucosa	stomach
19	chr11:17410600-17411800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:17410600-17411800	Active TSS	Brain Hippocampus Middle	brain
21	chr11:17410800-17411600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:17410800-17417200	Weak transcription	Gastric	stomach
23	chr11:17411000-17411600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr11:17411000-17411600	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr11:17411000-17411600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr11:17411000-17411600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:17411000-17411600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:17411000-17411600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr11:17411000-17411600	Active TSS	Fetal Kidney	kidney
30	chr11:17411000-17411600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr11:17411000-17411600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
32	chr11:17411000-17411600	Weak transcription	Spleen	Spleen
33	chr11:17411000-17411800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:17411000-17411800	Flanking Active TSS	Dnd41	blood
35	chr11:17411200-17411600	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr11:17411200-17411600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:17411200-17411600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:17411200-17411600	Flanking Active TSS	Liver	Liver
39	chr11:17411200-17411600	Flanking Active TSS	Fetal Intestine Small	intestine
40	chr11:17411200-17411600	Flanking Active TSS	Thymus	Thymus
41	chr11:17411200-17411800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr11:17411200-17411800	Enhancers	Esophagus	oesophagus
43	chr11:17411200-17411800	Bivalent Enhancer	Placenta	Placenta
44	chr11:17411200-17411800	Enhancers	Lung	lung
45	chr11:17411200-17411800	Flanking Active TSS	Pancreas	Pancrea
46	chr11:17411200-17411800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr11:17411400-17411600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:17411400-17411600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr11:17411400-17411600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:17411400-17411600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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