Variant report

Variant	rs7763721
Chromosome Location	chr6:3991753-3991754
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:3991492..3994091-chr6:3995382..3997946,2	K562	blood:
2	chr6:3990717..3994898-chr6:4017557..4021818,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230648	Chromatin interaction
ENSG00000112739	Chromatin interaction
ENSG00000272248	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1886334	0.90[ASN][1000 genomes]
rs4959915	0.94[ASN][1000 genomes]
rs6421941	0.94[ASN][1000 genomes]
rs6597023	0.94[ASN][1000 genomes]
rs6597024	0.91[ASN][1000 genomes]
rs6918566	0.92[ASN][1000 genomes]
rs6939049	0.92[ASN][1000 genomes]
rs9328213	0.92[ASN][1000 genomes]
rs9378394	0.83[ASN][1000 genomes]
rs9405690	0.92[ASN][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	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
4	esv1800199	chr6:3986611-4014872	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:3979000-4003200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr6:3980600-4003600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:3985400-4011000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:3987800-3993200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:3987800-3997200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:3987800-3998800	Weak transcription	Primary T cells from cord blood	blood
7	chr6:3988200-3997000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:3990600-3991800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:3990600-3991800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:3990800-3991800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:3990800-3991800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:3990800-3991800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:3990800-3991800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:3990800-3991800	Active TSS	Aorta	Aorta
15	chr6:3990800-3991800	Enhancers	Fetal Muscle Leg	muscle
16	chr6:3990800-3991800	Active TSS	NHDF-Ad	bronchial
17	chr6:3990800-3992000	Enhancers	Fetal Intestine Small	intestine
18	chr6:3990800-3993200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:3991000-3991800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:3991000-3991800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr6:3991000-3991800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:3991000-3991800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr6:3991000-3991800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:3991000-3991800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:3991000-3991800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:3991000-3991800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:3991000-3991800	Enhancers	Fetal Heart	heart
28	chr6:3991000-3991800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr6:3991000-3991800	Flanking Active TSS	NHEK	skin
30	chr6:3991000-3992200	Enhancers	Stomach Mucosa	stomach
31	chr6:3991000-3992800	Enhancers	Fetal Intestine Large	intestine
32	chr6:3991200-3991800	Enhancers	Colon Smooth Muscle	Colon
33	chr6:3991200-3991800	Enhancers	Pancreas	Pancrea
34	chr6:3991200-3991800	Weak transcription	NH-A	brain
35	chr6:3991200-3991800	Enhancers	NHLF	lung
36	chr6:3991200-3993200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:3991200-4003800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr6:3991200-4008400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:3991200-4010400	Weak transcription	K562	blood
40	chr6:3991200-4011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:3991200-4012200	Weak transcription	Left Ventricle	heart
42	chr6:3991400-3991800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:3991400-3991800	Enhancers	Duodenum Mucosa	Duodenum
44	chr6:3991400-3991800	Enhancers	Fetal Lung	lung
45	chr6:3991400-3991800	Enhancers	Fetal Stomach	stomach
46	chr6:3991400-3991800	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr6:3991400-3992000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr6:3991400-3992200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:3991400-3992200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr6:3991400-3992200	Enhancers	Osteobl	bone

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