Variant report

Variant	rs60994230
Chromosome Location	chr12:32331974-32331975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32331886..32334489-chr12:32336141..32338880,2	MCF-7	breast:
2	chr12:32330903..32333479-chr12:32337570..32339472,2	MCF-7	breast:
3	chr12:32323730..32326324-chr12:32330475..32332808,2	MCF-7	breast:
4	chr12:32330686..32332341-chr12:32334381..32336776,2	MCF-7	breast:
5	chr12:32331693..32333915-chr12:32344800..32346339,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12304056	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304066	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs161972	1.00[AMR][1000 genomes]
rs16919377	1.00[AMR][1000 genomes]
rs2009380	0.83[AFR][1000 genomes]
rs55802552	1.00[AMR][1000 genomes]
rs57735320	1.00[AMR][1000 genomes]
rs58039881	1.00[AMR][1000 genomes]
rs58186216	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59313683	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59549999	1.00[AMR][1000 genomes]
rs7294637	1.00[AMR][1000 genomes]
rs7295834	1.00[AMR][1000 genomes]
rs74072003	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072005	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072006	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074440	1.00[AMR][1000 genomes]
rs74074443	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074445	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7957620	1.00[AMR][1000 genomes]
rs7957784	1.00[AMR][1000 genomes]
rs7958620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription 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	10 gene(s)	inside rSNPs	diseases
5	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv511506	chr12:32325010-32337187	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv558172	chr12:32327158-32333579	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv558173	chr12:32327158-32334915	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv437142	chr12:32327158-32354966	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv558174	chr12:32327175-32333448	Weak transcription Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv558175	chr12:32327175-32333579	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv8942	chr12:32330343-32337158	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3389825	chr12:32330473-32335932	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3485564	chr12:32330506-32335923	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3485575	chr12:32330534-32335917	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3485586	chr12:32330534-32335917	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv512263	chr12:32330575-32336214	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv14182	chr12:32330884-32335632	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv558176	chr12:32331669-32333579	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv558177	chr12:32331669-32334915	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv558178	chr12:32331669-32335191	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv558179	chr12:32331669-32350703	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv558180	chr12:32331853-32333579	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv558181	chr12:32331853-32334915	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv558182	chr12:32331853-32335191	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv558183	chr12:32331908-32334861	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv558184	chr12:32331908-32334915	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv558185	chr12:32331908-32335191	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32269000-32340200	Weak transcription	Dnd41	blood
2	chr12:32293600-32369200	Weak transcription	Thymus	Thymus
3	chr12:32299400-32334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:32299600-32346200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:32300200-32336600	Weak transcription	A549	lung
6	chr12:32303000-32336600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:32309400-32353400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:32309600-32336400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:32309600-32346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:32309600-32351400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:32309600-32352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:32309800-32336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:32309800-32336600	Weak transcription	HMEC	breast
14	chr12:32313200-32336600	Weak transcription	NH-A	brain
15	chr12:32313400-32369400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:32315000-32333000	Weak transcription	Right Atrium	heart
17	chr12:32315400-32346000	Weak transcription	Primary B cells from cord blood	blood
18	chr12:32315600-32336600	Weak transcription	HSMM	muscle
19	chr12:32316400-32334600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:32319800-32340400	Weak transcription	Fetal Intestine Small	intestine
21	chr12:32319800-32343600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:32323600-32373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:32325400-32334000	Weak transcription	Fetal Brain Male	brain
24	chr12:32325400-32347000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:32325600-32334600	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:32325800-32333400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:32326000-32351400	Weak transcription	Osteobl	bone
28	chr12:32326000-32353200	Weak transcription	Ovary	ovary
29	chr12:32326200-32338400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:32327600-32337800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:32328600-32337800	Weak transcription	Aorta	Aorta
32	chr12:32330800-32332000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:32330800-32332600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:32330800-32334000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:32331000-32332400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr12:32331000-32333800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr12:32331000-32334000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr12:32331200-32332200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr12:32331200-32332200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr12:32331200-32332200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:32331200-32332400	Enhancers	Fetal Brain Female	brain
42	chr12:32331200-32333600	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:32331400-32332000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:32331400-32332000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:32331400-32332000	Enhancers	Adipose Nuclei	Adipose
46	chr12:32331600-32332000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:32331600-32332200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:32331600-32332400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr12:32331600-32333000	Weak transcription	Fetal Muscle Leg	muscle
50	chr12:32331600-32336600	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links