Variant report

Variant	rs6763780
Chromosome Location	chr3:141132948-141132949
allele	C/G/T
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	chr3:141130048..141133212-chr3:141148834..141151163,3	MCF-7	breast:
2	chr3:141127732..141130108-chr3:141132601..141134481,2	MCF-7	breast:
3	chr3:141119395..141121846-chr3:141130487..141133374,3	K562	blood:
4	chr3:141085385..141089817-chr3:141128434..141134875,8	K562	blood:
5	chr3:141118092..141121599-chr3:141132205..141135279,4	MCF-7	breast:
6	chr3:141126040..141127652-chr3:141131247..141133290,2	MCF-7	breast:
7	chr3:141119734..141124291-chr3:141125562..141133374,8	K562	blood:
8	chr3:141029410..141031621-chr3:141132926..141134468,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000177311	Chromatin interaction
ENSG00000249417	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1344673	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16851397	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55715288	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55750762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56243018	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73872717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73872719	1.00[EUR][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	chr3:141131800-141133000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:141131800-141133000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr3:141131800-141133000	Enhancers	Aorta	Aorta
19	chr3:141131800-141133200	Enhancers	Gastric	stomach
20	chr3:141131800-141133200	Enhancers	Spleen	Spleen
21	chr3:141131800-141133600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:141131800-141133600	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr3:141131800-141134000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
24	chr3:141131800-141134800	Genic enhancers	Osteobl	bone
25	chr3:141131800-141135600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:141131800-141136200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:141131800-141136200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:141131800-141136200	Genic enhancers	Lung	lung
29	chr3:141131800-141144600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:141131800-141161200	Weak transcription	Thymus	Thymus
31	chr3:141132000-141133000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr3:141132000-141133000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:141132000-141133600	Genic enhancers	Fetal Muscle Leg	muscle
34	chr3:141132000-141133800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:141132000-141134600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:141132000-141137400	Genic enhancers	Left Ventricle	heart
37	chr3:141132200-141133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr3:141132200-141133000	Enhancers	Adipose Nuclei	Adipose
39	chr3:141132200-141133000	Weak transcription	Fetal Thymus	thymus
40	chr3:141132200-141133000	Enhancers	Right Ventricle	heart
41	chr3:141132200-141133200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:141132200-141133200	Enhancers	Psoas Muscle	Psoas
43	chr3:141132200-141133400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:141132200-141133400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:141132200-141133800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:141132200-141133800	Weak transcription	Esophagus	oesophagus
47	chr3:141132200-141133800	Genic enhancers	HMEC	breast
48	chr3:141132200-141133800	Genic enhancers	NHEK	skin
49	chr3:141132200-141134000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:141132200-141134000	Genic enhancers	GM12878-XiMat	blood

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