Variant report

Variant	rs4901649
Chromosome Location	chr14:56668773-56668774
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	chr14:56667127..56669023-chr14:56670519..56672391,2	K562	blood:
2	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17091112	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs2228708	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs242390	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs242392	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242394	0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs242398	0.84[MEX][hapmap]
rs242400	0.86[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242410	0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs242413	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs242592	0.84[MEX][hapmap]
rs3783668	0.84[MEX][hapmap];0.82[AMR][1000 genomes]
rs429676	0.84[MEX][hapmap]
rs4636823	0.84[LWK][hapmap];0.94[YRI][hapmap]
rs4901667	0.82[JPT][hapmap]
rs753109	0.82[AMR][1000 genomes]
rs754689	0.84[MEX][hapmap]
rs754690	0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4901649	SLC35F4	cis	cerebellum	SCAN

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56649800-56674600	Weak transcription	Aorta	Aorta
2	chr14:56656800-56672200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:56662600-56668800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:56662600-56670600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:56662600-56672200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:56662600-56672200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr14:56662600-56677600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:56662600-56693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:56662800-56669800	Weak transcription	Fetal Intestine Large	intestine
10	chr14:56662800-56671800	Weak transcription	Spleen	Spleen
11	chr14:56662800-56672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:56662800-56672400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:56662800-56677400	Weak transcription	Right Atrium	heart
14	chr14:56662800-56683400	Weak transcription	Fetal Stomach	stomach
15	chr14:56663200-56679000	Weak transcription	Fetal Brain Female	brain
16	chr14:56663400-56672200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:56663400-56672400	Weak transcription	Primary T cells from cord blood	blood
18	chr14:56664200-56671800	Weak transcription	Brain Germinal Matrix	brain
19	chr14:56665400-56670600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:56665400-56671200	Weak transcription	Thymus	Thymus
21	chr14:56665400-56672000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:56665400-56674400	Weak transcription	Left Ventricle	heart
23	chr14:56665400-56674400	Weak transcription	Lung	lung
24	chr14:56665400-56691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr14:56666600-56671800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr14:56666800-56671800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr14:56666800-56671800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:56667000-56672000	Weak transcription	Fetal Kidney	kidney
29	chr14:56667200-56669000	Weak transcription	Pancreas	Pancrea
30	chr14:56667200-56669200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr14:56667200-56671800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr14:56667200-56671800	Weak transcription	Gastric	stomach
33	chr14:56667200-56672400	Weak transcription	Adipose Nuclei	Adipose
34	chr14:56667200-56672400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:56667200-56672400	Weak transcription	HUVEC	blood vessel
36	chr14:56667200-56672600	Weak transcription	NH-A	brain
37	chr14:56667200-56674600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:56667200-56683400	Weak transcription	NHDF-Ad	bronchial
39	chr14:56667400-56669600	Weak transcription	Fetal Intestine Small	intestine
40	chr14:56667400-56671200	Weak transcription	Stomach Mucosa	stomach
41	chr14:56667400-56671800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:56667400-56672400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr14:56667400-56672400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr14:56667400-56672400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr14:56667400-56672400	Weak transcription	A549	lung
46	chr14:56667400-56677400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:56667600-56671600	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:56667600-56672400	Weak transcription	Brain Anterior Caudate	brain
49	chr14:56667600-56672400	Weak transcription	Brain Substantia Nigra	brain
50	chr14:56667600-56674600	Weak transcription	Colon Smooth Muscle	Colon

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