Variant report

Variant	rs6438503
Chromosome Location	chr3:118930386-118930387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:118914548..118916696-chr3:118929232..118931834,2	K562	blood:
2	chr3:118926942..118931120-chr3:118957602..118962247,5	MCF-7	breast:
3	chr3:118930290..118933103-chr3:118948127..118950986,2	K562	blood:

Variant related genes	Relation type
ENSG00000121578	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10511384	1.00[CEU][hapmap]
rs12695382	1.00[CEU][hapmap]
rs13094747	1.00[CEU][hapmap]
rs13098659	0.94[CEU][hapmap]
rs2001286	1.00[CEU][hapmap]
rs3752376	1.00[CEU][hapmap]
rs3752377	1.00[CEU][hapmap]
rs3796358	0.94[CEU][hapmap]
rs9289125	1.00[CEU][hapmap]
rs9812715	1.00[CEU][hapmap]
rs9824387	1.00[CEU][hapmap]
rs9832248	1.00[CEU][hapmap]
rs9834466	0.94[CEU][hapmap]
rs9835060	0.88[CEU][hapmap]
rs9837110	1.00[CEU][hapmap]
rs9844382	1.00[CEU][hapmap]
rs9850349	1.00[CEU][hapmap]
rs9857127	1.00[CEU][hapmap]
rs9862321	1.00[CEU][hapmap]
rs9869645	1.00[CEU][hapmap]
rs9874573	1.00[CEU][hapmap]
rs9878996	0.94[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9879593	0.94[CEU][hapmap]
rs9881379	1.00[CEU][hapmap]
rs9881947	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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv591362	chr3:118906442-118948155	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118904600-118936400	Weak transcription	Gastric	stomach
2	chr3:118911800-118932600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:118915200-118934800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:118920400-118930400	Weak transcription	Fetal Kidney	kidney
5	chr3:118921400-118931200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:118923600-118930800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr3:118923800-118931600	Enhancers	Stomach Mucosa	stomach
8	chr3:118924200-118931600	Weak transcription	NHDF-Ad	bronchial
9	chr3:118924400-118933200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:118924400-118959000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:118924600-118945600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:118924800-118931200	Weak transcription	Right Ventricle	heart
13	chr3:118925800-118930800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:118926000-118931600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:118926200-118931800	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:118926200-118939400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr3:118926400-118931400	Weak transcription	NHLF	lung
18	chr3:118926600-118930800	Weak transcription	HUVEC	blood vessel
19	chr3:118926600-118931000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:118926600-118937000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr3:118926600-118937600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:118926800-118931000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:118926800-118934400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:118927000-118930400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:118927000-118943200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:118927000-118952600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:118927000-118953800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:118927000-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:118927200-118932400	Weak transcription	Fetal Thymus	thymus
30	chr3:118927200-118932600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:118927200-118937400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:118927200-118939800	Strong transcription	Liver	Liver
33	chr3:118927200-118943000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:118927200-118953800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:118927200-118955200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr3:118927400-118930400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr3:118927400-118931400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:118927400-118935800	Strong transcription	HSMM	muscle
39	chr3:118927400-118937800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr3:118927400-118941200	Strong transcription	Placenta	Placenta
41	chr3:118927400-118950200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:118927400-118953000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:118927600-118932200	Strong transcription	Aorta	Aorta
44	chr3:118927600-118934200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr3:118927600-118952400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr3:118927800-118930800	Weak transcription	NH-A	brain
47	chr3:118927800-118939200	Strong transcription	Primary hematopoietic stem cells	blood
48	chr3:118927800-118940600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:118927800-118943400	Strong transcription	Fetal Muscle Trunk	muscle
50	chr3:118927800-118956400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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