Variant report

Variant	rs12138655
Chromosome Location	chr1:151181555-151181556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151180789..151184373-chr1:151184663..151188461,3	MCF-7	breast:
2	chr1:151171256..151175527-chr1:151178181..151182275,7	MCF-7	breast:
3	1:151180715-151199990..1:151402394-151411623	GM12878	blood:
4	chr1:151175695..151178568-chr1:151178857..151183674,4	MCF-7	breast:
5	chr1:151171022..151173926-chr1:151179427..151183184,4	K562	blood:

Variant related genes	Relation type
ENSG00000143398	Chromatin interaction
ENSG00000238711	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1115	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs11204796	1.00[CHD][hapmap]
rs11581703	1.00[LWK][hapmap]
rs12042270	1.00[LWK][hapmap]
rs12076892	1.00[CHD][hapmap]
rs12142028	1.00[LWK][hapmap]
rs12727567	1.00[LWK][hapmap]
rs12744045	1.00[LWK][hapmap]
rs2233851	1.00[LWK][hapmap]

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151172800-151197200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:151172800-151204400	Weak transcription	Stomach Mucosa	stomach
3	chr1:151173200-151182200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:151173200-151191600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:151173200-151196600	Weak transcription	K562	blood
6	chr1:151173200-151197000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:151173200-151199600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:151173200-151200000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:151173200-151212000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:151173200-151227200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:151173600-151210600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:151173800-151185200	Strong transcription	Fetal Intestine Small	intestine
13	chr1:151174000-151194600	Weak transcription	Brain Substantia Nigra	brain
14	chr1:151174000-151199400	Weak transcription	Small Intestine	intestine
15	chr1:151174200-151200600	Weak transcription	Pancreas	Pancrea
16	chr1:151174400-151183600	Strong transcription	Fetal Thymus	thymus
17	chr1:151174400-151183800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:151174400-151187000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:151174400-151189200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:151174400-151203800	Weak transcription	Fetal Brain Male	brain
21	chr1:151174600-151184400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:151174600-151185000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:151174600-151185200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:151174800-151181800	Strong transcription	A549	lung
25	chr1:151174800-151183600	Strong transcription	Primary T cells from cord blood	blood
26	chr1:151175000-151182800	Strong transcription	NHEK	skin
27	chr1:151175000-151185400	Strong transcription	Fetal Stomach	stomach
28	chr1:151175000-151189000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:151175200-151184000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:151175200-151185200	Weak transcription	Psoas Muscle	Psoas
31	chr1:151175400-151183400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:151175600-151182800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:151175600-151185000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:151175800-151183200	Weak transcription	NH-A	brain
35	chr1:151175800-151193800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:151175800-151199800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:151175800-151200400	Weak transcription	Aorta	Aorta
38	chr1:151176000-151194600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:151176200-151200400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:151176600-151196400	Weak transcription	Primary B cells from cord blood	blood
41	chr1:151176600-151197000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:151177000-151182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:151177200-151183400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:151177400-151181600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:151177400-151182800	Strong transcription	Dnd41	blood
46	chr1:151177400-151185000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:151177600-151183400	Strong transcription	Hela-S3	cervix
48	chr1:151177600-151183600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr1:151177800-151183400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:151178000-151183800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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