Variant report

Variant	rs4971025
Chromosome Location	chr1:151234182-151234183
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151232549..151234323-chr1:151235189..151237747,2	MCF-7	breast:
2	chr1:151227043..151228858-chr1:151234009..151236435,4	MCF-7	breast:
3	chr1:151231717..151234446-chr1:151235033..151237516,2	K562	blood:
4	chr1:151225633..151229215-chr1:151231593..151235514,4	MCF-7	breast:
5	chr1:151234077..151236106-chr1:151238439..151240160,2	MCF-7	breast:
6	chr1:151231517..151234313-chr1:151236642..151238843,2	K562	blood:
7	chr1:151232097..151234568-chr1:151249498..151251245,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159352	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10749660	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10788803	0.89[ASN][1000 genomes]
rs10888408	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888409	0.86[ASN][1000 genomes]
rs10888410	0.86[ASN][1000 genomes]
rs11204785	0.82[EUR][1000 genomes]
rs11204791	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204795	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11807075	0.81[EUR][1000 genomes]
rs12022732	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12040384	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12048670	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12062719	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12080778	0.90[EUR][1000 genomes]
rs12407426	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16827941	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16833079	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1892196	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2275900	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41302131	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246525	0.84[ASN][1000 genomes]
rs4291501	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4520422	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4522000	0.88[ASN][1000 genomes]
rs4970944	0.81[EUR][1000 genomes]
rs4970948	0.85[ASN][1000 genomes]
rs4971013	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4971015	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4971016	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4971021	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4971023	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4971026	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4971027	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4971030	0.85[ASN][1000 genomes]
rs4971032	0.85[ASN][1000 genomes]
rs58323986	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61817972	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6587559	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6587562	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6681071	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6681163	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6683396	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6686402	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6695344	0.88[ASN][1000 genomes]
rs6701325	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7518924	0.85[ASN][1000 genomes]
rs7521064	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7527032	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7532935	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7539584	0.81[AFR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7544947	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs943637	0.85[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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151227600-151236200	Weak transcription	Spleen	Spleen
2	chr1:151228000-151234600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:151228000-151236200	Weak transcription	Gastric	stomach
4	chr1:151228200-151234600	Weak transcription	Ovary	ovary
5	chr1:151228200-151236400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:151228200-151237000	Weak transcription	Fetal Kidney	kidney
7	chr1:151228400-151234200	Weak transcription	Fetal Thymus	thymus
8	chr1:151228400-151234400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:151228400-151234400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:151228400-151234400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:151228400-151234400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:151228400-151234400	Weak transcription	Thymus	Thymus
13	chr1:151228400-151234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:151228400-151234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:151228400-151234600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:151228400-151234600	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:151228400-151234600	Weak transcription	Brain Substantia Nigra	brain
18	chr1:151228400-151234600	Weak transcription	Fetal Brain Female	brain
19	chr1:151228400-151234600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:151228400-151234600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:151228400-151234600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:151228400-151234800	Weak transcription	Colonic Mucosa	Colon
23	chr1:151228400-151234800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:151228400-151236200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:151228400-151236200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:151228400-151236400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:151228400-151236400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:151228400-151236400	Weak transcription	Aorta	Aorta
29	chr1:151228400-151236400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:151228400-151236400	Weak transcription	HSMMtube	muscle
31	chr1:151228400-151236400	Weak transcription	NHDF-Ad	bronchial
32	chr1:151228400-151236600	Weak transcription	Pancreas	Pancrea
33	chr1:151228400-151238200	Weak transcription	Small Intestine	intestine
34	chr1:151228400-151238400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:151228400-151244000	Weak transcription	Right Atrium	heart
36	chr1:151228400-151253400	Weak transcription	Fetal Brain Male	brain
37	chr1:151228600-151234200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:151228600-151234200	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:151228600-151234400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:151228600-151234400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:151228600-151234400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:151228600-151234400	Weak transcription	Adipose Nuclei	Adipose
43	chr1:151228600-151234400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:151228600-151234400	Weak transcription	Brain Germinal Matrix	brain
45	chr1:151228600-151234600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr1:151228600-151234600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:151228600-151234600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:151228600-151234600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:151228600-151234600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:151228600-151234600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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