Variant report

Variant	rs12071676
Chromosome Location	chr1:114338031-114338032
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114336958..114338587-chr1:114341807..114343723,2	MCF-7	breast:
2	chr1:114337375..114338962-chr1:114346569..114348868,2	K562	blood:
3	chr1:114336286..114339654-chr1:114341574..114345200,4	K562	blood:
4	chr1:114336878..114338564-chr1:114515485..114517158,2	K562	blood:
5	chr1:114318384..114320643-chr1:114337439..114339528,2	MCF-7	breast:
6	chr1:114320715..114322240-chr1:114337656..114339561,2	MCF-7	breast:
7	chr1:114318179..114320042-chr1:114335877..114339119,3	K562	blood:
8	chr1:114335490..114338068-chr1:114340379..114342249,2	MCF-7	breast:
9	chr1:114323968..114327770-chr1:114333801..114338657,5	MCF-7	breast:
10	chr1:114336082..114338962-chr1:114345301..114348868,4	K562	blood:
11	chr1:114336554..114338127-chr1:114354735..114356587,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000081019	Chromatin interaction
ENSG00000231128	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10858011	1.00[YRI][hapmap]
rs10858018	0.85[YRI][hapmap]
rs11102691	1.00[YRI][hapmap]
rs1146182	1.00[YRI][hapmap]
rs1146187	1.00[YRI][hapmap]
rs12060836	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12069381	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12086805	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12094790	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095235	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1217377	0.85[YRI][hapmap]
rs1217380	0.85[YRI][hapmap]
rs1217388	0.85[YRI][hapmap]
rs1217389	0.85[YRI][hapmap]
rs1217395	0.85[YRI][hapmap]
rs1217396	0.85[YRI][hapmap]
rs1217410	0.85[YRI][hapmap]
rs1217412	0.85[YRI][hapmap]
rs1230640	1.00[YRI][hapmap]
rs1230645	1.00[YRI][hapmap]
rs1230647	1.00[YRI][hapmap]
rs1230649	1.00[YRI][hapmap]
rs1230658	1.00[YRI][hapmap]
rs1230659	1.00[YRI][hapmap]
rs12565589	1.00[YRI][hapmap]
rs2636013	1.00[YRI][hapmap]
rs56354629	1.00[ASN][1000 genomes]
rs9429730	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1826178	chr1:114331645-114471583	Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv1842398	chr1:114331645-114471583	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	esv1848035	chr1:114331645-114471583	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:114311000-114341800	Weak transcription	Esophagus	oesophagus
4	chr1:114319800-114352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:114320000-114340000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:114320000-114354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:114326800-114338600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:114326800-114340000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:114327400-114339200	Weak transcription	HSMMtube	muscle
10	chr1:114327400-114341600	Weak transcription	Colonic Mucosa	Colon
11	chr1:114327400-114348800	Weak transcription	Spleen	Spleen
12	chr1:114327400-114351200	Weak transcription	Fetal Brain Male	brain
13	chr1:114329200-114339400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:114329200-114339600	Weak transcription	A549	lung
15	chr1:114329200-114340200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:114329200-114341600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:114329200-114345800	Weak transcription	Small Intestine	intestine
18	chr1:114329200-114353600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:114330600-114339400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:114331400-114340800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:114331600-114340600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:114331600-114341200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr1:114332000-114339400	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:114332000-114341000	Weak transcription	Brain Angular Gyrus	brain
25	chr1:114332000-114346400	Weak transcription	Gastric	stomach
26	chr1:114332000-114346800	Weak transcription	Brain Substantia Nigra	brain
27	chr1:114332400-114339200	Weak transcription	Ovary	ovary
28	chr1:114332400-114341600	Weak transcription	Right Ventricle	heart
29	chr1:114332400-114346600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:114332400-114347200	Weak transcription	Right Atrium	heart
31	chr1:114332400-114353400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:114334400-114341200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:114334800-114340600	Strong transcription	Primary B cells from cord blood	blood
34	chr1:114334800-114340600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:114335000-114339200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:114335000-114340600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:114335000-114340600	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:114335000-114341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:114335000-114342000	Strong transcription	K562	blood
40	chr1:114335200-114340600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:114335400-114338800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:114335400-114340600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr1:114335400-114340800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr1:114335400-114341000	Strong transcription	Dnd41	blood
45	chr1:114335400-114341400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:114335400-114341400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:114335800-114340800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:114335800-114340800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:114336000-114338200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:114336000-114339200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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