Variant report

Variant	rs11622835
Chromosome Location	chr14:103967504-103967505
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103957288..103960022-chr14:103965269..103968213,3	MCF-7	breast:
2	chr14:103966984..103970771-chr14:103985021..103987400,4	K562	blood:
3	chr14:103966852..103969165-chr14:104004136..104006723,2	MCF-7	breast:
4	chr14:103966734..103968731-chr14:104012541..104016540,3	MCF-7	breast:
5	chr14:103966787..103968360-chr14:104027177..104028739,2	MCF-7	breast:
6	chr14:103799655..103801928-chr14:103966389..103970885,4	MCF-7	breast:
7	chr14:103967396..103969946-chr14:103970218..103972376,2	MCF-7	breast:
8	chr14:103967247..103969712-chr14:104012689..104014722,2	MCF-7	breast:
9	chr14:103967396..103969451-chr14:104009245..104011145,2	MCF-7	breast:
10	chr14:103965301..103968285-chr14:103970025..103972869,2	MCF-7	breast:
11	chr14:103966781..103968440-chr14:103982656..103984906,2	MCF-7	breast:
12	chr14:103962191..103965143-chr14:103967090..103971008,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166170	Chromatin interaction
ENSG00000126214	Chromatin interaction
ENSG00000166165	Chromatin interaction
ENSG00000075413	Chromatin interaction
ENSG00000100664	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10141120	0.93[JPT][hapmap]
rs10141388	0.93[JPT][hapmap]
rs1028613	0.93[JPT][hapmap]
rs11621037	0.93[JPT][hapmap]
rs11622473	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11622552	0.94[CEU][hapmap];0.83[JPT][hapmap]
rs11623869	0.93[JPT][hapmap]
rs11625044	0.81[EUR][1000 genomes]
rs11626905	0.94[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs11627052	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs12879085	0.93[JPT][hapmap]
rs12898029	0.93[JPT][hapmap]
rs1467561	0.93[JPT][hapmap]
rs1803283	0.81[JPT][hapmap]
rs2010281	0.93[JPT][hapmap]
rs2273699	0.93[JPT][hapmap]
rs2273700	0.93[JPT][hapmap]
rs2296484	0.81[JPT][hapmap]
rs3783394	0.93[JPT][hapmap]
rs3783402	0.92[JPT][hapmap]
rs55790309	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575983	0.93[JPT][hapmap]
rs7152202	0.93[JPT][hapmap]
rs7155014	0.93[JPT][hapmap]
rs7158144	0.92[JPT][hapmap]
rs7158822	0.92[JPT][hapmap]
rs752268	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8015918	0.85[JPT][hapmap]
rs8017780	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs942865	0.81[EUR][1000 genomes]
rs9671911	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
5	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1818859	chr14:103967299-103989757	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
11	esv1833254	chr14:103967299-103989757	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv1835374	chr14:103967299-103989757	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
13	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11622835	MARK3	cis	Thyroid	GTEx
rs11622835	CKB	Cis_1M	lymphoblastoid	RTeQTL
rs11622835	KLC1	cis	parietal	SCAN
rs11622835	CKB	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:103943200-103969200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:103947600-103972800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr14:103947600-103980000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr14:103950400-103978800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:103950600-103979000	Strong transcription	Fetal Intestine Small	intestine
8	chr14:103951600-103972600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:103951600-103972800	Strong transcription	Dnd41	blood
10	chr14:103951600-103976600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:103952400-103968600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:103953000-103972800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:103953800-103977200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr14:103953800-103978800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr14:103955200-103967800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:103956000-103969000	Weak transcription	Small Intestine	intestine
17	chr14:103958200-103978200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:103958800-103980400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:103959400-103968400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:103959800-103967600	Weak transcription	Colonic Mucosa	Colon
21	chr14:103960000-103978000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:103961800-103968600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:103962400-103967600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:103962600-103967600	Weak transcription	Right Ventricle	heart
25	chr14:103962600-103968000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr14:103962600-103968200	Weak transcription	Psoas Muscle	Psoas
27	chr14:103962600-103978400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:103962600-103979000	Weak transcription	Right Atrium	heart
29	chr14:103963600-103978000	Strong transcription	Placenta	Placenta
30	chr14:103965000-103971800	Strong transcription	Primary B cells from cord blood	blood
31	chr14:103965000-103972200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:103965200-103972000	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr14:103965200-103978600	Strong transcription	Thymus	Thymus
34	chr14:103965400-103973400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:103965400-103977600	Strong transcription	Primary T cells from cord blood	blood
36	chr14:103965400-103978600	Strong transcription	Fetal Intestine Large	intestine
37	chr14:103965800-103968000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
38	chr14:103965800-103968200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:103965800-103968800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:103965800-103978200	Strong transcription	Left Ventricle	heart
41	chr14:103966000-103968800	Weak transcription	Fetal Brain Female	brain
42	chr14:103966000-103972200	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:103966000-103973200	Strong transcription	Spleen	Spleen
44	chr14:103966200-103967600	Enhancers	Brain Anterior Caudate	brain
45	chr14:103966200-103967600	Genic enhancers	Fetal Muscle Trunk	muscle
46	chr14:103966200-103967800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:103966200-103967800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr14:103966200-103968200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
49	chr14:103966200-103968400	Enhancers	Brain Angular Gyrus	brain
50	chr14:103966200-103968800	Genic enhancers	Osteobl	bone

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