Variant report

Variant	rs11849916
Chromosome Location	chr14:68888038-68888039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68885394..68888226-chr14:69257512..69260441,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1108007	1.00[JPT][hapmap]
rs11846360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11847185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1468278	0.84[ASN][1000 genomes]
rs17105463	1.00[JPT][hapmap]
rs17105469	1.00[JPT][hapmap]
rs17105515	1.00[JPT][hapmap]
rs17105667	1.00[YRI][hapmap]
rs17105669	1.00[YRI][hapmap]
rs17105675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17755657	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17755734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17755752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17828691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17828721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17828763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1956535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2107339	1.00[YRI][hapmap]
rs2331705	1.00[CEU][hapmap];0.84[ASN][1000 genomes]
rs34256824	0.84[ASN][1000 genomes]
rs35190649	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3784121	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7149983	0.84[ASN][1000 genomes]
rs73276281	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73276290	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv977483	chr14:68887798-68889629	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68877200-68890600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:68881000-68890600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:68882200-68890000	Weak transcription	Small Intestine	intestine
4	chr14:68882400-68893400	Weak transcription	Fetal Intestine Small	intestine
5	chr14:68883400-68888200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:68884000-68890200	Weak transcription	Primary B cells from cord blood	blood
7	chr14:68884200-68890800	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:68885200-68893600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:68885800-68889600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:68886000-68890600	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:68886200-68888200	Enhancers	Spleen	Spleen
12	chr14:68886200-68894800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:68886600-68890000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:68886600-68903200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:68887000-68888400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:68887200-68888200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:68887200-68888200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:68887200-68888200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:68887200-68888400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:68887400-68888200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:68887400-68888200	Enhancers	K562	blood
22	chr14:68887800-68888200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:68887800-68888200	Enhancers	Right Atrium	heart
24	chr14:68887800-68888800	Enhancers	Ovary	ovary
25	chr14:68887800-68890600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:68887800-68890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:68888000-68888200	Active TSS	Rectal Smooth Muscle	rectum
28	chr14:68888000-68888400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr14:68888000-68889600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:68888000-68891000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:68888000-68893400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:68888000-68901000	Weak transcription	Primary T cells from cord blood	blood

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