Variant report

Variant	rs1972615
Chromosome Location	chr14:78379811-78379812
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78372404..78376597-chr14:78376677..78380306,3	K562	blood:
2	chr14:78375925..78378556-chr14:78379735..78381780,2	MCF-7	breast:
3	chr14:78379164..78381775-chr14:78388793..78390991,2	K562	blood:

Variant related genes	Relation type
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10141302	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10151802	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs11621071	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11622333	0.88[CEU][hapmap];0.83[AMR][1000 genomes]
rs11623841	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11624543	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11625402	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11625663	0.82[CEU][hapmap]
rs11628161	0.82[CEU][hapmap]
rs17753195	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28566696	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28653270	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4346144	0.81[CEU][hapmap]
rs58092208	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58940899	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60021537	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60330258	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7359160	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74063702	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74065815	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74065816	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs74065820	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9323655	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs9323656	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]

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	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv565233	chr14:78366967-78390880	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv34345	chr14:78370455-78496587	Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2757576	chr14:78379156-78502019	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2759999	chr14:78379156-78502019	Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78327800-78400600	Weak transcription	Colonic Mucosa	Colon
2	chr14:78349200-78397200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:78349200-78407200	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:78352600-78398800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:78354800-78391600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:78355000-78390800	Weak transcription	Spleen	Spleen
7	chr14:78355000-78391600	Weak transcription	Esophagus	oesophagus
8	chr14:78355600-78398000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:78356000-78393600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:78356000-78398600	Weak transcription	Fetal Intestine Large	intestine
11	chr14:78356200-78390800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr14:78356800-78399600	Weak transcription	Thymus	Thymus
13	chr14:78357000-78398600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:78359200-78399600	Weak transcription	HSMMtube	muscle
15	chr14:78359200-78399800	Weak transcription	Primary B cells from cord blood	blood
16	chr14:78359400-78384200	Weak transcription	Right Ventricle	heart
17	chr14:78359800-78390800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:78364000-78398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:78366000-78393000	Weak transcription	Aorta	Aorta
20	chr14:78367400-78399200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr14:78369200-78392000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:78369400-78397400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr14:78369600-78394000	Weak transcription	Liver	Liver
24	chr14:78369800-78384200	Weak transcription	Left Ventricle	heart
25	chr14:78370000-78380400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:78370000-78397600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr14:78372800-78399200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:78373000-78383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:78373000-78395200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr14:78373600-78380000	Enhancers	K562	blood
31	chr14:78374200-78390200	Weak transcription	Lung	lung
32	chr14:78374800-78391000	Weak transcription	Ovary	ovary
33	chr14:78375200-78391000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:78375200-78391600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:78375400-78400800	Weak transcription	NHEK	skin
36	chr14:78375600-78397800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr14:78376000-78384400	Weak transcription	Right Atrium	heart
38	chr14:78376000-78392200	Weak transcription	Fetal Intestine Small	intestine
39	chr14:78376600-78386600	Weak transcription	Adipose Nuclei	Adipose
40	chr14:78376800-78384400	Weak transcription	Gastric	stomach
41	chr14:78377000-78384600	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:78377000-78392000	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:78377000-78393200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr14:78377200-78398600	Weak transcription	Brain Substantia Nigra	brain
45	chr14:78377200-78399600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr14:78377800-78390200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr14:78378000-78380800	Weak transcription	Primary T cells from cord blood	blood
48	chr14:78378800-78380200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:78378800-78380400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:78378800-78381000	Enhancers	HUES6 Cell Line	embryonic stem cell

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