Variant report

Variant	rs1275747
Chromosome Location	chr14:70134052-70134053
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70131947..70135119-chr14:70167812..70170384,3	K562	blood:
2	chr14:70132759..70134809-chr14:70205522..70208289,2	MCF-7	breast:
3	chr14:70125594..70128080-chr14:70133461..70135976,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10138481	0.81[YRI][hapmap]
rs10149246	0.81[YRI][hapmap]
rs11620826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11622083	0.81[EUR][1000 genomes]
rs11623812	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap]
rs11624654	0.83[EUR][1000 genomes]
rs11624754	0.83[EUR][1000 genomes]
rs11627867	1.00[CEU][hapmap]
rs11629212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12587433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12589913	0.85[YRI][hapmap]
rs1275748	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1275749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[ASN][1000 genomes]
rs17107177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1763223	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs1957365	0.82[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap]
rs2224541	0.85[YRI][hapmap]
rs2275124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2332163	0.86[JPT][hapmap]
rs3784144	0.82[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap]
rs3784149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3825736	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs4899308	0.85[YRI][hapmap]
rs57346352	0.82[EUR][1000 genomes]
rs61980737	0.91[ASN][1000 genomes]
rs61982060	0.87[ASN][1000 genomes]
rs8010776	0.93[ASN][1000 genomes]
rs8020026	0.90[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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70123800-70137600	Weak transcription	Dnd41	blood
3	chr14:70127200-70139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:70127400-70134200	Enhancers	Colon Smooth Muscle	Colon
5	chr14:70127400-70134200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr14:70127400-70137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:70127600-70134800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:70127600-70135000	Enhancers	Adipose Nuclei	Adipose
9	chr14:70127600-70135000	Enhancers	Psoas Muscle	Psoas
10	chr14:70128200-70140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:70128400-70136200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:70128400-70138000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70128400-70138000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:70128600-70137800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:70129000-70137000	Enhancers	Small Intestine	intestine
16	chr14:70129200-70135000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:70129400-70134200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:70129400-70134800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:70129600-70134200	Enhancers	Fetal Heart	heart
20	chr14:70129800-70138200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr14:70130000-70138000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:70130000-70148800	Weak transcription	NHEK	skin
23	chr14:70130200-70135000	Enhancers	Fetal Muscle Leg	muscle
24	chr14:70130200-70135200	Enhancers	Right Atrium	heart
25	chr14:70130200-70136800	Weak transcription	Fetal Kidney	kidney
26	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:70130400-70136600	Enhancers	Primary B cells from peripheral blood	blood
28	chr14:70130400-70138200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:70130400-70139200	Weak transcription	Gastric	stomach
30	chr14:70131000-70134800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr14:70131000-70139400	Weak transcription	Thymus	Thymus
32	chr14:70131200-70134600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr14:70131200-70135000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:70131200-70135000	Enhancers	Brain Hippocampus Middle	brain
35	chr14:70131200-70135000	Enhancers	Brain Substantia Nigra	brain
36	chr14:70131400-70134200	Enhancers	Duodenum Mucosa	Duodenum
37	chr14:70131600-70134200	Enhancers	Brain Angular Gyrus	brain
38	chr14:70131600-70134400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:70132000-70136400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:70132200-70137400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr14:70132400-70134200	Enhancers	Brain Cingulate Gyrus	brain
42	chr14:70132400-70134400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr14:70132400-70135000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr14:70132400-70135000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr14:70132400-70137400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr14:70132600-70134200	Enhancers	Stomach Mucosa	stomach
47	chr14:70132600-70134800	Enhancers	Brain Anterior Caudate	brain
48	chr14:70132600-70134800	Weak transcription	Right Ventricle	heart
49	chr14:70133000-70135000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr14:70133000-70136000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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