Variant report

Variant	rs9372653
Chromosome Location	chr6:121632008-121632009
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:121630562..121632167-chr6:121640292..121642248,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11505181	1.00[AFR][1000 genomes]
rs1273708	1.00[AFR][1000 genomes]
rs1273709	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1273727	0.88[AFR][1000 genomes]
rs1273747	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1273767	1.00[AFR][1000 genomes]
rs1289973	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs1289975	1.00[AFR][1000 genomes]
rs4255016	1.00[AFR][1000 genomes]
rs4299866	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4318918	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs4371869	1.00[AFR][1000 genomes]
rs4506065	1.00[AFR][1000 genomes]
rs4607467	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6420716	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6569193	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6569196	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7740477	1.00[AFR][1000 genomes]
rs7755286	1.00[AFR][1000 genomes]
rs7765698	1.00[AFR][1000 genomes]
rs7772508	0.88[AFR][1000 genomes]
rs785396	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs796771	0.88[AFR][1000 genomes]
rs9385195	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9387944	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9401386	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9401392	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9482126	1.00[AFR][1000 genomes]
rs9482127	1.00[AFR][1000 genomes]
rs9482128	1.00[AFR][1000 genomes]
rs9482129	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9482136	1.00[YRI][hapmap]
rs9490139	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9490144	1.00[AFR][1000 genomes]
rs9490145	1.00[AFR][1000 genomes]
rs9490150	0.94[AFR][1000 genomes]
rs9490163	1.00[AFR][1000 genomes]
rs9490167	1.00[AFR][1000 genomes]
rs9490170	0.87[AFR][1000 genomes]

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	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830789	chr6:121581450-121732320	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1017944	chr6:121600538-121644362	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121586400-121655000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:121588400-121655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:121588800-121642000	Weak transcription	Left Ventricle	heart
4	chr6:121589000-121632800	Weak transcription	Fetal Lung	lung
5	chr6:121589000-121635200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:121589000-121637600	Weak transcription	Ovary	ovary
7	chr6:121589000-121654200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:121589200-121655000	Weak transcription	Fetal Stomach	stomach
9	chr6:121594200-121654800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:121601600-121635200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:121602600-121637800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:121603000-121632600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:121604000-121645200	Weak transcription	Fetal Kidney	kidney
14	chr6:121604400-121642000	Weak transcription	Primary B cells from cord blood	blood
15	chr6:121604800-121653000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr6:121606600-121655000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr6:121611000-121640400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:121611200-121655000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:121612600-121637600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:121613200-121637600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:121613400-121640400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:121614200-121633200	Weak transcription	Dnd41	blood
23	chr6:121614200-121640400	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:121615600-121655000	Weak transcription	Pancreas	Pancrea
25	chr6:121616200-121655000	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:121617200-121651600	Weak transcription	GM12878-XiMat	blood
27	chr6:121619000-121640400	Weak transcription	Brain Anterior Caudate	brain
28	chr6:121620200-121640400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr6:121622200-121654600	Weak transcription	Fetal Thymus	thymus
30	chr6:121622600-121655000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:121622800-121640400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:121622800-121654800	Weak transcription	Brain Germinal Matrix	brain
33	chr6:121624200-121644800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr6:121628200-121640400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:121629800-121633000	Weak transcription	Primary T cells from cord blood	blood
36	chr6:121629800-121648400	Weak transcription	Brain Substantia Nigra	brain
37	chr6:121630000-121632400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:121630000-121632400	Enhancers	HMEC	breast
39	chr6:121630600-121632200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr6:121630600-121632400	Enhancers	Fetal Intestine Large	intestine
41	chr6:121630600-121651600	Weak transcription	K562	blood
42	chr6:121630800-121632200	Enhancers	HSMM	muscle
43	chr6:121630800-121632400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:121630800-121632400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:121630800-121636400	Weak transcription	Thymus	Thymus
46	chr6:121631000-121632400	Enhancers	NHLF	lung
47	chr6:121631400-121632200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:121631600-121632200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:121631800-121632200	Enhancers	Fetal Intestine Small	intestine
50	chr6:121631800-121632400	Enhancers	Rectal Mucosa Donor 31	rectum

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