Variant report

Variant	rs172280
Chromosome Location	chr6:34330581-34330582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:34330571..34332725-chr6:34351916..34353996,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs182280	1.00[YRI][hapmap]
rs1889733	1.00[YRI][hapmap]
rs206922	1.00[YRI][hapmap]
rs206928	1.00[YRI][hapmap]
rs206931	1.00[YRI][hapmap]
rs206932	1.00[YRI][hapmap]
rs206933	1.00[YRI][hapmap]
rs206938	1.00[YRI][hapmap]
rs206940	1.00[YRI][hapmap]
rs2395563	1.00[YRI][hapmap]
rs2840286	1.00[YRI][hapmap]
rs3846870	1.00[YRI][hapmap]
rs453919	1.00[YRI][hapmap]
rs460389	1.00[YRI][hapmap]
rs462194	1.00[YRI][hapmap]
rs466031	1.00[YRI][hapmap]
rs4713778	1.00[YRI][hapmap]
rs4713814	1.00[YRI][hapmap]
rs6457780	1.00[YRI][hapmap]
rs6908420	1.00[YRI][hapmap]
rs7773372	1.00[YRI][hapmap]
rs9394233	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv1034978	chr6:34327526-34362187	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:34285200-34330600	Weak transcription	Thymus	Thymus
3	chr6:34308800-34330800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:34309800-34330800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:34309800-34337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:34309800-34347200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:34310000-34330600	Weak transcription	Dnd41	blood
8	chr6:34310800-34330800	Weak transcription	Primary T cells from cord blood	blood
9	chr6:34315400-34351200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:34316200-34333400	Weak transcription	Placenta	Placenta
11	chr6:34317400-34330800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:34318200-34330600	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:34318200-34355800	Weak transcription	Brain Germinal Matrix	brain
14	chr6:34318600-34330600	Weak transcription	Fetal Intestine Small	intestine
15	chr6:34318800-34330600	Weak transcription	Adipose Nuclei	Adipose
16	chr6:34320200-34330800	Weak transcription	Primary B cells from cord blood	blood
17	chr6:34320400-34330800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:34320400-34330800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:34320400-34333400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:34320400-34350400	Weak transcription	Esophagus	oesophagus
21	chr6:34320600-34330600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr6:34320600-34331000	Weak transcription	Small Intestine	intestine
23	chr6:34322200-34333600	Weak transcription	Lung	lung
24	chr6:34324200-34330600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:34325400-34331000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:34325600-34330600	Enhancers	Fetal Heart	heart
27	chr6:34325800-34330600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr6:34326400-34331600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:34326600-34330600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:34326600-34330800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:34327000-34351600	Weak transcription	Ovary	ovary
32	chr6:34327600-34330600	Weak transcription	Brain Substantia Nigra	brain
33	chr6:34327600-34332400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:34327600-34342200	Weak transcription	Fetal Kidney	kidney
35	chr6:34327800-34330600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:34327800-34330600	Weak transcription	Liver	Liver
37	chr6:34327800-34330600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:34327800-34330600	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:34327800-34330600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:34327800-34330600	Weak transcription	Fetal Lung	lung
41	chr6:34327800-34330800	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr6:34327800-34330800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:34327800-34330800	Weak transcription	Stomach Mucosa	stomach
44	chr6:34327800-34356400	Weak transcription	Hela-S3	cervix
45	chr6:34328000-34330600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:34328000-34330600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:34328000-34330600	Weak transcription	Brain Anterior Caudate	brain
48	chr6:34328000-34330600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:34328000-34330600	Weak transcription	HepG2	liver
50	chr6:34328000-34330800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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