Variant report

Variant	rs1217231
Chromosome Location	chr1:114136923-114136924
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	chr1:114135355..114138035-chr1:114138572..114141485,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1217194	0.84[AFR][1000 genomes]
rs1217202	0.96[AFR][1000 genomes]
rs1217212	0.97[AFR][1000 genomes]
rs1217216	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217222	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1217224	0.98[AFR][1000 genomes]
rs1217225	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1217229	0.95[AFR][1000 genomes]
rs1230673	0.95[YRI][hapmap]
rs1235000	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs1237290	0.98[AFR][1000 genomes]
rs1343629	0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1343630	0.88[YRI][hapmap]
rs13524	0.95[YRI][hapmap]
rs1624335	1.00[YRI][hapmap]
rs1743594	1.00[YRI][hapmap]
rs1935836	0.84[YRI][hapmap]
rs2636003	0.95[YRI][hapmap]
rs35390985	0.86[ASN][1000 genomes]
rs4259646	0.89[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs6537790	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs7511816	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7522138	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7554019	0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[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	nsv947311	chr1:114122533-114137619	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1012324	chr1:114135133-114206843	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114094800-114138400	Weak transcription	NHDF-Ad	bronchial
2	chr1:114100600-114140200	Weak transcription	Left Ventricle	heart
3	chr1:114100600-114173400	Weak transcription	Gastric	stomach
4	chr1:114110800-114139600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:114113000-114138400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:114116800-114138200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:114117600-114138400	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:114119000-114140400	Weak transcription	Fetal Stomach	stomach
9	chr1:114119200-114138200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:114119200-114140400	Weak transcription	Esophagus	oesophagus
11	chr1:114119200-114145200	Weak transcription	Lung	lung
12	chr1:114119200-114172400	Weak transcription	Pancreas	Pancrea
13	chr1:114119200-114173000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:114122800-114137600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:114122800-114142600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:114123000-114138800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:114123400-114137600	Weak transcription	Dnd41	blood
18	chr1:114123400-114139600	Weak transcription	Fetal Heart	heart
19	chr1:114123800-114138400	Weak transcription	Small Intestine	intestine
20	chr1:114124200-114140200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:114124400-114172400	Weak transcription	Aorta	Aorta
22	chr1:114124800-114139600	Weak transcription	Fetal Brain Male	brain
23	chr1:114126600-114139400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:114126600-114139400	Weak transcription	HSMM	muscle
25	chr1:114126600-114157200	Weak transcription	HUVEC	blood vessel
26	chr1:114126800-114138200	Weak transcription	Fetal Kidney	kidney
27	chr1:114127000-114137600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:114127000-114139600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:114127200-114137200	Weak transcription	Adipose Nuclei	Adipose
30	chr1:114127400-114139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:114128000-114137000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:114128000-114139600	Weak transcription	HepG2	liver
33	chr1:114128000-114140000	Weak transcription	Ovary	ovary
34	chr1:114129200-114138600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:114131800-114137600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:114132400-114138800	Weak transcription	Primary T cells from cord blood	blood
37	chr1:114132600-114143200	Weak transcription	NH-A	brain
38	chr1:114133400-114141000	Weak transcription	HMEC	breast
39	chr1:114134200-114139400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:114134600-114166400	Weak transcription	Hela-S3	cervix
41	chr1:114135400-114140600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:114135400-114141600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:114135600-114139600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr1:114135800-114141800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:114136200-114141200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr1:114136400-114137000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:114136400-114137000	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:114136400-114137000	Strong transcription	Fetal Intestine Large	intestine
49	chr1:114136600-114137000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:114136600-114137000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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