Variant report

Variant	rs10135362
Chromosome Location	chr14:105800660-105800661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr14:105800621-105801152	H1-hESC	embryonic stem cell:	n/a	chr14:105801045-105801058
2	CTCF	chr14:105800441-105801419	HCT-116	colon:	n/a	chr14:105801399-105801407
3	CTCF	chr14:105800531-105801328	HCT-116	colon:	n/a	n/a
4	RAD21	chr14:105800626-105801290	HCT-116	colon:	n/a	chr14:105801045-105801058
5	CTCF	chr14:105800470-105801240	MCF-7	breast:	n/a	n/a
6	RAD21	chr14:105800581-105801283	HCT-116	colon:	n/a	chr14:105801045-105801058

No.	Distal block	Cell Line	Cell type
1	chr14:105767766..105768456-chr14:105800435..105801361,2	MCF-7	breast:
2	chr14:105795359..105796925-chr14:105800577..105802391,2	K562	blood:
3	chr14:105798156..105801052-chr14:105809426..105811006,2	MCF-7	breast:

Variant related genes	Relation type
PACS2	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10132438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141048	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142682	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10143232	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147378	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147674	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10148379	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148455	1.00[ASN][1000 genomes]
rs11847153	1.00[ASN][1000 genomes]
rs11849421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101178	1.00[ASN][1000 genomes]
rs28378394	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28545538	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28569215	1.00[ASN][1000 genomes]
rs57000673	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57229884	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58816330	0.83[ASN][1000 genomes]
rs59143495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60545468	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576084	0.83[ASN][1000 genomes]
rs7144362	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73357391	1.00[ASN][1000 genomes]
rs73359015	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73359017	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73359022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73359031	0.84[AFR][1000 genomes]
rs73359035	1.00[ASN][1000 genomes]
rs73359049	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004328	0.94[AFR][1000 genomes]
rs8010649	1.00[ASN][1000 genomes]
rs8021520	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671782	0.83[ASN][1000 genomes]
rs9671890	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
4	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv902422	chr14:105420215-105803170	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv902423	chr14:105430890-105803170	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS 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 miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv902424	chr14:105436222-105803170	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
8	esv2758369	chr14:105513346-105803170	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	esv2760014	chr14:105513346-105803170	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv902441	chr14:105602619-105803170	Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv902442	chr14:105602619-105803170	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv1817919	chr14:105605199-105803170	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
14	nsv902466	chr14:105704465-105803170	Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	esv29986	chr14:105707292-105803170	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv832887	chr14:105717339-105803170	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv832888	chr14:105717339-105803170	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105782600-105807400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:105783600-105802800	Weak transcription	Fetal Intestine Large	intestine
3	chr14:105784000-105821800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:105784200-105802400	Weak transcription	Dnd41	blood
5	chr14:105789200-105805600	Enhancers	Brain Anterior Caudate	brain
6	chr14:105790000-105802200	Enhancers	Brain Hippocampus Middle	brain
7	chr14:105790200-105805400	Enhancers	Brain Substantia Nigra	brain
8	chr14:105791000-105803400	Enhancers	Fetal Muscle Leg	muscle
9	chr14:105791400-105804200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:105791800-105803600	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:105792400-105804200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr14:105793400-105804400	Weak transcription	Fetal Lung	lung
13	chr14:105793800-105821000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:105794400-105801000	Weak transcription	Fetal Brain Male	brain
15	chr14:105794600-105801000	Enhancers	Lung	lung
16	chr14:105794600-105801800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr14:105794800-105801000	Enhancers	Adipose Nuclei	Adipose
18	chr14:105797000-105806800	Weak transcription	Aorta	Aorta
19	chr14:105797000-105849200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:105797200-105800800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:105797200-105804000	Weak transcription	Colonic Mucosa	Colon
22	chr14:105797200-105804200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:105797200-105804200	Weak transcription	NHEK	skin
24	chr14:105797200-105804400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:105797200-105804600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:105797200-105806600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:105797200-105810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr14:105797200-105820800	Weak transcription	NHLF	lung
29	chr14:105797400-105801200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:105797400-105801400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:105797400-105802000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:105797400-105802600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:105797400-105807000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:105797400-105807000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:105797400-105812000	Weak transcription	K562	blood
36	chr14:105797400-105821200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:105798000-105802200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:105798200-105802400	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr14:105798200-105803800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr14:105798200-105818400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:105798400-105800800	Enhancers	Psoas Muscle	Psoas
42	chr14:105798400-105801000	Enhancers	HSMM	muscle
43	chr14:105798400-105802000	Enhancers	Brain Cingulate Gyrus	brain
44	chr14:105798400-105805400	Enhancers	Left Ventricle	heart
45	chr14:105798400-105805600	Enhancers	Right Ventricle	heart
46	chr14:105798400-105809400	Weak transcription	HepG2	liver
47	chr14:105798600-105801400	Weak transcription	Thymus	Thymus
48	chr14:105798600-105803000	Enhancers	HSMMtube	muscle
49	chr14:105798600-105803200	Enhancers	Brain Angular Gyrus	brain
50	chr14:105798600-105805200	Enhancers	Pancreas	Pancrea

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