Variant report

Variant	rs9671708
Chromosome Location	chr14:31450950-31450951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31449482..31451358-chr14:31494020..31496170,2	MCF-7	breast:
2	chr14:31450203..31451782-chr14:31545197..31546790,2	K562	blood:
3	chr14:31449675..31451460-chr14:31453567..31455215,2	K562	blood:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10872847	1.00[YRI][hapmap]
rs1121875	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs11625404	1.00[YRI][hapmap]
rs1474801	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs179697	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs179703	1.00[AFR][1000 genomes]
rs2024661	1.00[YRI][hapmap]
rs2179933	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs2378814	1.00[YRI][hapmap]
rs4354834	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4981800	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6571371	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6571373	1.00[AFR][1000 genomes]
rs6571379	1.00[AFR][1000 genomes]
rs7150937	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7156647	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7350756	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs8011685	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs8020670	1.00[YRI][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3411274	chr14:31442250-31460681	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr14:31436200-31457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:31436400-31455200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:31436400-31457200	Weak transcription	HSMM	muscle
6	chr14:31436400-31457800	Weak transcription	NHEK	skin
7	chr14:31437000-31451600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:31440000-31457200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:31440400-31455200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:31440400-31462000	Weak transcription	Right Atrium	heart
11	chr14:31441000-31464800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:31441200-31457000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:31441200-31457400	Weak transcription	NH-A	brain
14	chr14:31441600-31464200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:31442400-31461400	Weak transcription	Left Ventricle	heart
16	chr14:31442400-31494400	Weak transcription	Gastric	stomach
17	chr14:31442600-31457800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:31443000-31459800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:31443200-31460200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:31443400-31451400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:31443400-31460000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:31443600-31462200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:31444000-31472800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr14:31444200-31457000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:31444200-31459800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:31444200-31464000	Weak transcription	Brain Anterior Caudate	brain
28	chr14:31444400-31460600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:31444800-31455800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:31445000-31458200	Weak transcription	Psoas Muscle	Psoas
31	chr14:31445000-31460600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr14:31445800-31455000	Weak transcription	Colon Smooth Muscle	Colon
33	chr14:31445800-31459600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:31446400-31457000	Weak transcription	Fetal Stomach	stomach
35	chr14:31446600-31459800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:31446600-31461600	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:31449200-31451000	Enhancers	A549	lung
38	chr14:31449200-31451200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:31449200-31451200	Enhancers	Liver	Liver
40	chr14:31449200-31453800	Enhancers	Primary B cells from peripheral blood	blood
41	chr14:31449400-31460800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr14:31449600-31451200	Enhancers	HepG2	liver
43	chr14:31449600-31457800	Weak transcription	HMEC	breast
44	chr14:31450400-31451200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:31450400-31451800	Weak transcription	K562	blood
46	chr14:31450400-31452200	Enhancers	GM12878-XiMat	blood
47	chr14:31450400-31453400	Weak transcription	Fetal Intestine Large	intestine
48	chr14:31450400-31454200	Weak transcription	Fetal Intestine Small	intestine
49	chr14:31450400-31456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:31450600-31451000	Weak transcription	Primary B cells from cord blood	blood

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