Variant report

Variant	rs621684
Chromosome Location	chr1:210396310-210396311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210394665..210397584-chr1:210404970..210407618,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203706	Chromatin interaction
ENSG00000082497	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11119446	1.00[EUR][1000 genomes]
rs11119448	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55792645	1.00[EUR][1000 genomes]
rs55884682	1.00[EUR][1000 genomes]
rs56215802	1.00[EUR][1000 genomes]
rs56397999	1.00[EUR][1000 genomes]
rs59742593	1.00[EUR][1000 genomes]
rs600232	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs653935	1.00[EUR][1000 genomes]
rs663132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs663987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681011	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs685743	1.00[EUR][1000 genomes]
rs73074137	1.00[EUR][1000 genomes]
rs74156132	1.00[EUR][1000 genomes]
rs7555552	0.97[AFR][1000 genomes];0.85[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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 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	chr1:210395200-210397200	Enhancers	Rectal Smooth Muscle	rectum
2	chr1:210395400-210396400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:210395400-210396600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr1:210395400-210396800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:210395400-210396800	Enhancers	NHEK	skin
6	chr1:210395600-210396400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:210395600-210396400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:210395600-210396800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:210395600-210396800	Enhancers	HSMMtube	muscle
10	chr1:210395600-210397000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:210395800-210396800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:210395800-210396800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:210395800-210396800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:210395800-210396800	Enhancers	Colonic Mucosa	Colon
15	chr1:210395800-210396800	Enhancers	Fetal Muscle Leg	muscle
16	chr1:210395800-210397000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:210395800-210397200	Enhancers	Colon Smooth Muscle	Colon
18	chr1:210396000-210396600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:210396000-210396600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr1:210396000-210396800	Enhancers	NH-A	brain
21	chr1:210396000-210397000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:210396000-210397000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:210396000-210397200	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:210396000-210397200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:210396000-210397200	Enhancers	Stomach Smooth Muscle	stomach
26	chr1:210396000-210397600	Enhancers	Fetal Kidney	kidney
27	chr1:210396200-210396400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:210396200-210396400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:210396200-210396600	Bivalent Enhancer	Fetal Heart	heart
30	chr1:210396200-210397000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr1:210396200-210397000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:210396200-210397000	Enhancers	Fetal Stomach	stomach
33	chr1:210396200-210397000	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr1:210396200-210397200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:210396200-210397200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:210396200-210397200	Enhancers	Small Intestine	intestine
37	chr1:210396200-210397200	Enhancers	Stomach Mucosa	stomach
38	chr1:210396200-210397200	Bivalent Enhancer	NHDF-Ad	bronchial

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