Variant report

Variant	rs993784
Chromosome Location	chr2:210291815-210291816
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210291185..210292983-chr2:210295300..210297710,2	MCF-7	breast:
2	chr2:210288753..210291116-chr2:210291474..210294355,2	K562	blood:

Variant related genes	Relation type
ENSG00000078018	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10153809	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174291	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182475	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10185216	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10192555	0.82[CEU][hapmap]
rs10200389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10200539	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201740	0.94[EUR][1000 genomes]
rs10210266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10932297	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10932301	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678209	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11889366	0.90[ASN][1000 genomes]
rs11900413	0.94[ASN][1000 genomes]
rs11904626	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613165	1.00[JPT][hapmap]
rs12614926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12614974	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12617330	0.93[ASN][1000 genomes]
rs12621534	0.93[ASN][1000 genomes]
rs12622130	0.93[ASN][1000 genomes]
rs12623404	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12623555	0.92[ASN][1000 genomes]
rs12694180	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13005529	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13020975	0.93[EUR][1000 genomes]
rs13023264	0.90[ASN][1000 genomes]
rs13024490	0.93[ASN][1000 genomes]
rs13028173	0.93[ASN][1000 genomes]
rs13028553	0.93[ASN][1000 genomes]
rs13033819	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13034750	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13391766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13391768	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1374333	0.93[ASN][1000 genomes]
rs1446593	1.00[JPT][hapmap]
rs1446595	0.80[YRI][hapmap]
rs1446596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16842875	0.93[ASN][1000 genomes]
rs16842884	0.93[ASN][1000 genomes]
rs16842895	0.80[YRI][hapmap]
rs17236116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28556312	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558587	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28610349	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35424736	0.82[ASN][1000 genomes]
rs4417658	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs60358187	0.96[ASN][1000 genomes]
rs6435528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435529	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726105	0.82[CEU][hapmap];0.86[YRI][hapmap]
rs6733750	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6751612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72492734	0.82[ASN][1000 genomes]
rs72995681	1.00[ASN][1000 genomes]
rs73060566	0.82[ASN][1000 genomes]
rs7557610	0.93[ASN][1000 genomes]
rs7563521	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7568431	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7568858	0.93[ASN][1000 genomes]
rs7569773	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575409	0.93[ASN][1000 genomes]
rs7577392	0.94[ASN][1000 genomes]
rs7580883	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7593008	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7594469	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7594842	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595924	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602104	0.93[ASN][1000 genomes]
rs7608377	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7608854	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288407	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs992028	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9967799	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1005298	chr2:210277791-210318067	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210288000-210292000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr2:210288200-210292400	Active TSS	Cortex derived primary cultured neurospheres	brain
3	chr2:210288200-210294400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:210289800-210293000	Active TSS	Brain Germinal Matrix	brain
5	chr2:210290000-210292800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:210290000-210300200	Weak transcription	Pancreas	Pancrea
7	chr2:210290200-210296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:210290200-210296400	Weak transcription	Osteobl	bone
9	chr2:210290200-210300200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:210290600-210292200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:210290600-210296200	Weak transcription	NH-A	brain
12	chr2:210290800-210292800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:210290800-210293200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:210290800-210295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:210290800-210296200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:210291400-210292200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:210291400-210293600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:210291400-210296400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:210291400-210296800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:210291600-210292000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:210291600-210292000	Enhancers	A549	lung
22	chr2:210291600-210292600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:210291600-210292600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:210291600-210292600	Weak transcription	Brain Anterior Caudate	brain
25	chr2:210291600-210292800	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:210291600-210295800	Weak transcription	HMEC	breast
27	chr2:210291600-210296200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:210291600-210296400	Weak transcription	Aorta	Aorta
29	chr2:210291600-210296600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:210291800-210292000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:210291800-210292200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:210291800-210292800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:210291800-210292800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:210291800-210292800	Flanking Active TSS	Fetal Brain Female	brain
35	chr2:210291800-210293200	Enhancers	Fetal Brain Male	brain
36	chr2:210291800-210293200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr2:210291800-210295400	Weak transcription	NHEK	skin
38	chr2:210291800-210296200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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