Variant report

Variant	rs11968283
Chromosome Location	chr6:24832250-24832251
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:24719517..24722485-chr6:24831707..24833948,3	K562	blood:
2	chr6:24822460..24825391-chr6:24831977..24834019,3	K562	blood:
3	chr6:24720209..24722485-chr6:24831933..24833948,2	K562	blood:

Variant related genes	Relation type
ENSG00000112308	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11961640	1.00[CEU][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11963887	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11968286	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11968340	0.80[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11969506	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs61741706	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6918210	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv508396	chr6:24779648-24846309	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24777000-24847600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:24777000-24859600	Weak transcription	Psoas Muscle	Psoas
3	chr6:24788800-24848200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:24789200-24842600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:24798200-24841200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:24800000-24843200	Weak transcription	Liver	Liver
7	chr6:24802600-24834200	Weak transcription	HSMM	muscle
8	chr6:24804800-24858200	Weak transcription	Gastric	stomach
9	chr6:24806200-24842400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr6:24808800-24845600	Weak transcription	Fetal Stomach	stomach
11	chr6:24809800-24839200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:24810000-24832600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:24817800-24836000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:24817800-24839600	Strong transcription	Primary T cells from cord blood	blood
15	chr6:24817800-24840800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr6:24817800-24854400	Strong transcription	Primary B cells from cord blood	blood
17	chr6:24817800-24855800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr6:24818000-24836200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:24818000-24840000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:24818000-24840600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:24818000-24840600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr6:24818600-24855800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:24818800-24856000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr6:24818800-24856400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr6:24821400-24834400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:24821400-24836000	Strong transcription	Primary hematopoietic stem cells	blood
27	chr6:24822400-24840200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:24822600-24844000	Weak transcription	Fetal Heart	heart
29	chr6:24823000-24833400	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr6:24823000-24835200	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:24825600-24834800	Weak transcription	Esophagus	oesophagus
32	chr6:24826600-24833400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:24827200-24833000	Strong transcription	Placenta	Placenta
34	chr6:24827200-24834000	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr6:24827400-24834800	Strong transcription	Fetal Muscle Leg	muscle
36	chr6:24827400-24836200	Strong transcription	Thymus	Thymus
37	chr6:24827600-24836200	Strong transcription	HSMMtube	muscle
38	chr6:24827800-24840800	Weak transcription	Lung	lung
39	chr6:24828000-24840600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:24828000-24842600	Weak transcription	Dnd41	blood
41	chr6:24828200-24833800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr6:24828200-24834000	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:24828200-24834400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:24828400-24834800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
45	chr6:24828400-24835000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:24828400-24835800	Weak transcription	Left Ventricle	heart
47	chr6:24828400-24840600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:24828600-24834400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr6:24828800-24835800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr6:24829600-24835200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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