Variant report

Variant	rs229624
Chromosome Location	chr14:65197767-65197768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65193907..65195958-chr14:65196523..65198377,4	MCF-7	breast:
2	chr14:65195829..65198759-chr14:65228499..65232345,3	MCF-7	breast:
3	chr14:65196332..65199526-chr14:65204522..65207283,4	MCF-7	breast:
4	chr14:65192632..65194965-chr14:65195428..65197963,2	MCF-7	breast:
5	chr14:65171254..65174488-chr14:65196605..65199995,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs17179970	0.91[ASN][1000 genomes]
rs17179984	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17180090	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17767188	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17767206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1985465	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1985466	0.83[ASN][1000 genomes]
rs1998120	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs229620	0.91[ASN][1000 genomes]
rs229625	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs229626	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.91[ASN][1000 genomes]
rs229644	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.91[ASN][1000 genomes]
rs229646	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs229650	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap];0.91[ASN][1000 genomes]
rs229651	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs229655	0.91[ASN][1000 genomes]
rs229660	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs229662	0.95[ASN][1000 genomes]
rs229663	0.95[ASN][1000 genomes]
rs229664	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs41301473	0.95[ASN][1000 genomes]
rs41307086	0.91[ASN][1000 genomes]
rs58789159	0.95[ASN][1000 genomes]
rs73273513	0.83[ASN][1000 genomes]
rs73273517	0.87[ASN][1000 genomes]
rs73273524	0.95[ASN][1000 genomes]
rs73273534	0.95[ASN][1000 genomes]
rs73273536	0.95[ASN][1000 genomes]
rs73273546	0.87[ASN][1000 genomes]
rs73273549	0.95[ASN][1000 genomes]
rs754435	0.95[ASN][1000 genomes]
rs872296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65184000-65208800	Weak transcription	Fetal Brain Male	brain
2	chr14:65189800-65207000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:65191400-65197800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr14:65191600-65198000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:65192400-65210400	Weak transcription	Osteobl	bone
6	chr14:65193200-65200800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:65193200-65212200	Weak transcription	Fetal Heart	heart
8	chr14:65193400-65198200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:65193400-65212400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:65193400-65212400	Weak transcription	HSMMtube	muscle
11	chr14:65193600-65198400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:65193600-65203200	Strong transcription	Fetal Stomach	stomach
13	chr14:65193600-65209200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr14:65193600-65212800	Weak transcription	HUVEC	blood vessel
15	chr14:65193800-65201200	Strong transcription	Fetal Muscle Leg	muscle
16	chr14:65193800-65212200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:65193800-65214400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr14:65194000-65198600	Weak transcription	Stomach Mucosa	stomach
19	chr14:65194000-65200600	Strong transcription	A549	lung
20	chr14:65194000-65201200	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr14:65194000-65203000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:65194000-65203000	Strong transcription	Placenta	Placenta
23	chr14:65194000-65209000	Weak transcription	Small Intestine	intestine
24	chr14:65194200-65198600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:65194200-65200600	Strong transcription	Colon Smooth Muscle	Colon
26	chr14:65194200-65201000	Strong transcription	Ovary	ovary
27	chr14:65194200-65204800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:65194200-65216200	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:65194400-65199800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:65194400-65200400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:65194400-65200400	Strong transcription	Brain Germinal Matrix	brain
32	chr14:65194400-65200400	Strong transcription	Gastric	stomach
33	chr14:65194400-65200800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:65194400-65200800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:65194400-65200800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:65194400-65200800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:65194400-65201000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr14:65194400-65201200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:65194600-65199800	Strong transcription	Brain Angular Gyrus	brain
40	chr14:65194600-65199800	Strong transcription	Brain Cingulate Gyrus	brain
41	chr14:65194600-65199800	Strong transcription	Fetal Lung	lung
42	chr14:65194600-65200400	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr14:65194600-65200600	Strong transcription	Fetal Brain Female	brain
44	chr14:65194600-65200600	Strong transcription	Rectal Smooth Muscle	rectum
45	chr14:65194600-65200800	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr14:65194600-65200800	Strong transcription	Aorta	Aorta
47	chr14:65194600-65200800	Strong transcription	Liver	Liver
48	chr14:65194600-65200800	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:65194600-65202800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr14:65194600-65203000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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