Variant report

Variant	rs17011848
Chromosome Location	chr1:223124619-223124620
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223118299..223120802-chr1:223123598..223126411,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234523	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17163554	1.00[ASN][1000 genomes]
rs2378616	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61837499	1.00[ASN][1000 genomes]
rs61837506	1.00[ASN][1000 genomes]
rs7531333	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv873206	chr1:222985197-223124916	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1828950	chr1:223111708-223132433	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223102200-223128000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:223102200-223130800	Weak transcription	Fetal Brain Male	brain
3	chr1:223105000-223128800	Weak transcription	Ovary	ovary
4	chr1:223112600-223126200	Weak transcription	Osteobl	bone
5	chr1:223114200-223129000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:223114200-223130600	Weak transcription	Left Ventricle	heart
7	chr1:223114800-223129200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:223115200-223126600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:223116600-223126600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:223116800-223128200	Weak transcription	Placenta	Placenta
11	chr1:223116800-223130400	Weak transcription	Liver	Liver
12	chr1:223116800-223130600	Weak transcription	Brain Substantia Nigra	brain
13	chr1:223116800-223135800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:223117000-223125000	Weak transcription	Primary T cells from cord blood	blood
15	chr1:223117000-223126200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:223117000-223127000	Weak transcription	Fetal Brain Female	brain
17	chr1:223117000-223129200	Weak transcription	Brain Anterior Caudate	brain
18	chr1:223117000-223135000	Weak transcription	Primary B cells from cord blood	blood
19	chr1:223117000-223138400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:223117200-223127800	Weak transcription	Fetal Stomach	stomach
21	chr1:223117200-223133800	Weak transcription	Lung	lung
22	chr1:223117600-223125000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:223119200-223131400	Weak transcription	Right Ventricle	heart
24	chr1:223120400-223126600	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:223121000-223128000	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:223123800-223127000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:223124000-223125000	Enhancers	Stomach Mucosa	stomach
28	chr1:223124200-223126800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:223124400-223125000	Enhancers	Fetal Lung	lung
30	chr1:223124400-223125000	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr1:223124400-223128000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:223124400-223130400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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