Variant report

Variant	rs12044611
Chromosome Location	chr1:161697547-161697548
allele	C/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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161695790..161697784-chr8:91655626..91657821,2	MCF-7	breast:
2	chr1:161696233..161698594-chr1:161718488..161721013,2	MCF-7	breast:
3	chr1:161696482..161699035-chr1:161718061..161722028,6	K562	blood:
4	chr1:161657417..161659539-chr1:161696325..161698709,3	K562	blood:
5	chr1:161648385..161650314-chr1:161696093..161698220,2	K562	blood:
6	chr1:161696672..161698764-chr1:161719597..161721628,3	K562	blood:
7	chr1:161654373..161658306-chr1:161696464..161699587,3	MCF-7	breast:
8	chr1:161694367..161698874-chr1:161718174..161721030,6	MCF-7	breast:
9	chr1:161651291..161653505-chr1:161696476..161699114,3	K562	blood:
10	chr1:161697451..161700405-chr1:161734526..161737492,2	K562	blood:
11	chr1:161695918..161698329-chr1:161735226..161737077,2	MCF-7	breast:
12	chr1:161683127..161685809-chr1:161696033..161698160,3	MCF-7	breast:
13	chr1:161535342..161537175-chr1:161695826..161698506,2	MCF-7	breast:
14	chr1:161696821..161698460-chr1:161718041..161719561,2	K562	blood:
15	chr1:161640986..161643411-chr1:161696404..161699095,2	MCF-7	breast:
16	chr1:161696699..161697640-chr1:161719530..161720155,2	MCF-7	breast:
17	chr1:161645664..161648632-chr1:161696817..161700044,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000081721	Chromatin interaction
ENSG00000213075	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000226889	Chromatin interaction
ENSG00000118217	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10917740	1.00[CEU][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12040409	0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12043179	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12043181	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12045955	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16857520	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16858998	0.82[EUR][1000 genomes]
rs17405152	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4301614	1.00[CEU][hapmap];0.82[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61801161	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61801163	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61801180	0.90[EUR][1000 genomes]
rs61801182	0.82[EUR][1000 genomes]
rs61801185	0.82[EUR][1000 genomes]
rs61801186	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
6	nsv464195	chr1:161693003-161702792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	nsv548076	chr1:161693003-161702792	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
8	esv3343743	chr1:161695553-161698101	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161695400-161697600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr1:161695400-161697600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr1:161695400-161697600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:161695400-161697600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:161695400-161697600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr1:161695400-161697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:161695400-161697600	Active TSS	Brain Substantia Nigra	brain
8	chr1:161695400-161697600	Active TSS	Fetal Kidney	kidney
9	chr1:161695400-161697800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:161695400-161697800	Active TSS	Brain Angular Gyrus	brain
11	chr1:161695400-161697800	Active TSS	Ovary	ovary
12	chr1:161695400-161698000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:161695400-161698200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:161695600-161697600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:161695600-161697600	Active TSS	Aorta	Aorta
16	chr1:161695600-161697600	Active TSS	Brain Hippocampus Middle	brain
17	chr1:161695600-161697600	Active TSS	Colon Smooth Muscle	Colon
18	chr1:161695600-161697600	Active TSS	Psoas Muscle	Psoas
19	chr1:161695600-161697600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr1:161695600-161697800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:161695600-161697800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr1:161695600-161697800	Active TSS	Brain Anterior Caudate	brain
23	chr1:161695800-161697600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:161695800-161697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:161695800-161697600	Active TSS	Brain Cingulate Gyrus	brain
26	chr1:161695800-161697600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr1:161695800-161697600	Active TSS	Gastric	stomach
28	chr1:161695800-161697600	Active TSS	Lung	lung
29	chr1:161695800-161697600	Active TSS	A549	lung
30	chr1:161695800-161697800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:161695800-161697800	Active TSS	NHDF-Ad	bronchial
32	chr1:161695800-161698000	Active TSS	NHLF	lung
33	chr1:161696000-161697600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr1:161696000-161697600	Active TSS	Fetal Brain Male	brain
35	chr1:161696000-161697600	Active TSS	Fetal Lung	lung
36	chr1:161696000-161697800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:161696000-161697800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:161696000-161697800	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr1:161696000-161698000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:161696200-161697600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:161696200-161697600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
42	chr1:161696200-161697600	Active TSS	Esophagus	oesophagus
43	chr1:161696200-161697600	Active TSS	K562	blood
44	chr1:161696200-161697800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
45	chr1:161696200-161697800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:161696200-161697800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:161696200-161697800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:161696200-161697800	Active TSS	Rectal Smooth Muscle	rectum
49	chr1:161696200-161698200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:161696400-161697600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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