Variant report

Variant	rs17123771
Chromosome Location	chr1:63148487-63148488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:63146913..63149001-chr1:63152180..63153818,3	MCF-7	breast:
2	chr1:63143255..63144801-chr1:63148236..63149930,2	K562	blood:
3	chr1:63146446..63150617-chr1:63151147..63154830,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235545	Chromatin interaction
ENSG00000116641	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58433878	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61743961	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661082	1.00[CEU][hapmap]
rs6661162	1.00[CEU][hapmap]
rs6661179	1.00[CEU][hapmap]
rs6676546	0.83[AMR][1000 genomes]
rs72913238	0.84[AFR][1000 genomes]
rs72915113	0.84[AFR][1000 genomes]
rs72915127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915134	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915136	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7533847	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7556456	1.00[CEU][hapmap]

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	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
2	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
3	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
4	chr1:63111400-63150200	Weak transcription	Fetal Lung	lung
5	chr1:63112400-63152400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:63113600-63151000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:63118000-63150800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:63119800-63150200	Weak transcription	Adipose Nuclei	Adipose
10	chr1:63128800-63150800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:63131200-63149200	Weak transcription	Fetal Intestine Small	intestine
12	chr1:63138000-63153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:63138400-63151000	Weak transcription	Fetal Intestine Large	intestine
14	chr1:63138600-63150800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:63138800-63150000	Weak transcription	Stomach Mucosa	stomach
16	chr1:63141400-63152600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:63141600-63149000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:63142800-63152400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:63143000-63150800	Weak transcription	Ovary	ovary
20	chr1:63143000-63151400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:63143000-63152400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:63143000-63153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:63143200-63150800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:63143200-63150800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:63143200-63151200	Weak transcription	Aorta	Aorta
26	chr1:63143200-63151200	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:63143400-63150000	Weak transcription	NHLF	lung
28	chr1:63143400-63150800	Weak transcription	Fetal Heart	heart
29	chr1:63143800-63150200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:63147400-63148800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr1:63147400-63149000	Enhancers	Brain Anterior Caudate	brain
32	chr1:63147400-63149600	Enhancers	HepG2	liver
33	chr1:63147400-63151000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:63147600-63148600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:63147600-63148800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr1:63147600-63149000	Enhancers	HMEC	breast
37	chr1:63147600-63150600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:63147600-63150600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:63147600-63150800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:63147600-63151000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:63147600-63152600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:63147800-63148600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:63147800-63148600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:63147800-63148600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr1:63147800-63148800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:63147800-63149000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:63147800-63149000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr1:63147800-63149000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:63147800-63149000	Enhancers	HUVEC	blood vessel
50	chr1:63147800-63149000	Enhancers	NHDF-Ad	bronchial

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