Variant report

Variant	rs6750921
Chromosome Location	chr2:85971108-85971109
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85970891..85973881-chr2:85976191..85979014,2	K562	blood:
2	chr2:85956902..85958870-chr2:85969528..85972246,2	K562	blood:
3	chr2:85961835..85963960-chr2:85967873..85971227,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17026608	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17026610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2009485	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2366814	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2366815	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55678683	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56085927	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59731035	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6743301	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9677221	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85965000-85973400	Enhancers	Fetal Muscle Leg	muscle
2	chr2:85966800-85972200	Enhancers	Lung	lung
3	chr2:85967200-85972400	Enhancers	Stomach Mucosa	stomach
4	chr2:85967400-85971400	Enhancers	Esophagus	oesophagus
5	chr2:85968000-85971200	Flanking Active TSS	A549	lung
6	chr2:85968000-85971600	Enhancers	Pancreas	Pancrea
7	chr2:85968000-85971600	Enhancers	NHDF-Ad	bronchial
8	chr2:85968000-85972200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:85968000-85972200	Enhancers	NHLF	lung
10	chr2:85968000-85972600	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:85968000-85974600	Enhancers	Left Ventricle	heart
12	chr2:85968200-85971400	Enhancers	Fetal Brain Male	brain
13	chr2:85968200-85972400	Enhancers	HUVEC	blood vessel
14	chr2:85968200-85973200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr2:85968200-85973800	Enhancers	Right Ventricle	heart
16	chr2:85968200-85974200	Enhancers	Right Atrium	heart
17	chr2:85968400-85971200	Enhancers	HMEC	breast
18	chr2:85968400-85971600	Enhancers	Spleen	Spleen
19	chr2:85968400-85973400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:85968600-85971200	Enhancers	Fetal Thymus	thymus
21	chr2:85968600-85971400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:85968600-85971600	Bivalent Enhancer	Fetal Intestine Small	intestine
23	chr2:85969000-85971600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:85969000-85972600	Enhancers	Fetal Stomach	stomach
25	chr2:85969200-85971600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:85969200-85972000	Enhancers	Brain Substantia Nigra	brain
27	chr2:85969200-85972800	Enhancers	Fetal Kidney	kidney
28	chr2:85969400-85971200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr2:85969600-85971200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:85969600-85972000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:85969600-85972000	Enhancers	HSMM	muscle
32	chr2:85969600-85972000	Enhancers	HSMMtube	muscle
33	chr2:85969600-85972000	Enhancers	Osteobl	bone
34	chr2:85969600-85972800	Enhancers	Liver	Liver
35	chr2:85969600-85973000	Enhancers	NH-A	brain
36	chr2:85969600-85973600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:85969600-85974200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr2:85969800-85971600	Enhancers	Gastric	stomach
39	chr2:85969800-85971600	Enhancers	Psoas Muscle	Psoas
40	chr2:85969800-85971600	Bivalent Enhancer	GM12878-XiMat	blood
41	chr2:85969800-85971800	Enhancers	Small Intestine	intestine
42	chr2:85969800-85972800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:85969800-85973000	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr2:85969800-85973800	Enhancers	Brain Angular Gyrus	brain
45	chr2:85969800-85973800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr2:85970000-85972200	Enhancers	Ovary	ovary
47	chr2:85970200-85971200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:85970200-85971400	Enhancers	Brain Germinal Matrix	brain
49	chr2:85970200-85971600	Enhancers	Aorta	Aorta
50	chr2:85970200-85972400	Bivalent Enhancer	Placenta	Placenta

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