Variant report

Variant	rs6764191
Chromosome Location	chr3:141133298-141133299
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141127732..141130108-chr3:141132601..141134481,2	MCF-7	breast:
2	chr3:141119395..141121846-chr3:141130487..141133374,3	K562	blood:
3	chr3:141085385..141089817-chr3:141128434..141134875,8	K562	blood:
4	chr3:141133198..141135160-chr3:141173942..141176696,2	MCF-7	breast:
5	chr3:141118092..141121599-chr3:141132205..141135279,4	MCF-7	breast:
6	chr3:141119734..141124291-chr3:141125562..141133374,8	K562	blood:
7	chr3:141029410..141031621-chr3:141132926..141134468,2	K562	blood:
8	chr3:141119704..141122794-chr3:141132983..141135901,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249417	Chromatin interaction
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10513137	0.81[YRI][hapmap]
rs16851408	0.88[YRI][hapmap];0.81[AFR][1000 genomes]
rs56694596	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59655257	0.87[AFR][1000 genomes]
rs61332214	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6440005	0.83[AFR][1000 genomes]
rs6792546	0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6801329	0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73872712	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73872713	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73872722	0.81[AFR][1000 genomes]
rs7625729	0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs9825379	0.81[YRI][hapmap]
rs9845854	0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141126800-141138000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:141129600-141133800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:141130200-141133600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr3:141130600-141133600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:141131200-141139200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:141131400-141134200	Enhancers	Primary T cells from cord blood	blood
7	chr3:141131600-141133400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:141131600-141133400	Genic enhancers	Placenta	Placenta
9	chr3:141131600-141133600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:141131600-141133600	Genic enhancers	Fetal Stomach	stomach
11	chr3:141131600-141134200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:141131600-141134400	Genic enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:141131600-141138800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:141131600-141144400	Strong transcription	Fetal Intestine Large	intestine
15	chr3:141131600-141145200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:141131800-141133600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:141131800-141133600	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr3:141131800-141134000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
19	chr3:141131800-141134800	Genic enhancers	Osteobl	bone
20	chr3:141131800-141135600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:141131800-141136200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:141131800-141136200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:141131800-141136200	Genic enhancers	Lung	lung
24	chr3:141131800-141144600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:141131800-141161200	Weak transcription	Thymus	Thymus
26	chr3:141132000-141133600	Genic enhancers	Fetal Muscle Leg	muscle
27	chr3:141132000-141133800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:141132000-141134600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr3:141132000-141137400	Genic enhancers	Left Ventricle	heart
30	chr3:141132200-141133400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:141132200-141133400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:141132200-141133800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:141132200-141133800	Weak transcription	Esophagus	oesophagus
34	chr3:141132200-141133800	Genic enhancers	HMEC	breast
35	chr3:141132200-141133800	Genic enhancers	NHEK	skin
36	chr3:141132200-141134000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:141132200-141134000	Genic enhancers	GM12878-XiMat	blood
38	chr3:141132200-141134200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:141132200-141134200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr3:141132200-141134200	Genic enhancers	Muscle Satellite Cultured Cells	--
41	chr3:141132200-141134200	Weak transcription	Ovary	ovary
42	chr3:141132200-141134400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr3:141132200-141134400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:141132200-141134400	Genic enhancers	NH-A	brain
45	chr3:141132200-141135000	Genic enhancers	Brain Hippocampus Middle	brain
46	chr3:141132200-141135400	Genic enhancers	Hela-S3	cervix
47	chr3:141132200-141135400	Genic enhancers	HUVEC	blood vessel
48	chr3:141132200-141135600	Enhancers	Right Atrium	heart
49	chr3:141132200-141135800	Genic enhancers	Duodenum Mucosa	Duodenum
50	chr3:141132200-141135800	Genic enhancers	NHLF	lung

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