Variant report

Variant	rs4906335
Chromosome Location	chr14:104021141-104021142
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104002894..104005189-chr14:104020540..104022849,2	K562	blood:
2	chr14:103991343..103994487-chr14:104021014..104023570,3	MCF-7	breast:
3	chr14:103989521..103992471-chr14:104020578..104022117,2	K562	blood:
4	chr14:104018005..104022715-chr14:104023184..104028959,7	K562	blood:

Variant related genes	Relation type
ENSG00000126214	Chromatin interaction
ENSG00000166170	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10431750	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11846404	0.88[CHD][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap]
rs12884809	0.90[CHD][hapmap];0.91[MEX][hapmap]
rs12887734	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12889403	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12889721	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12890820	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12894729	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2273175	0.87[MEX][hapmap]
rs2274267	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2296482	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2403196	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2403197	0.92[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2896487	0.83[EUR][1000 genomes]
rs34026011	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34186780	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34896432	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35026580	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35229468	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35496194	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35498576	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4900590	0.80[JPT][hapmap]
rs4906336	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906337	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4906338	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906356	0.88[CHD][hapmap];0.80[JPT][hapmap];0.87[MEX][hapmap]
rs55751606	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58033365	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7140568	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71417868	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7148456	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs729438	0.82[CHD][hapmap]
rs8017628	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8017993	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	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
5	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
6	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
7	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
8	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	nsv827068	chr14:103982866-104021347	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
12	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers 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	41 gene(s)	inside rSNPs	diseases
13	esv1825092	chr14:104005264-104022171	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4906335	MARK3	cis	cerebellum	SCAN
rs4906335	ZFYVE21	cis	cerebellum	SCAN
rs4906335	C14orf153	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103996800-104023400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:104002200-104022600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:104002800-104023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:104007200-104024400	Weak transcription	Fetal Kidney	kidney
5	chr14:104009800-104023400	Weak transcription	Fetal Thymus	thymus
6	chr14:104010000-104023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:104010200-104023600	Weak transcription	Liver	Liver
8	chr14:104010400-104023600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:104010600-104024200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:104010600-104025000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:104011400-104025000	Weak transcription	Ovary	ovary
12	chr14:104011400-104027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:104013200-104022200	Weak transcription	Thymus	Thymus
14	chr14:104013200-104024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr14:104013400-104021800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:104013400-104023400	Weak transcription	Dnd41	blood
17	chr14:104013600-104021200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr14:104013600-104021200	Weak transcription	Gastric	stomach
19	chr14:104013600-104023000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:104013600-104023200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:104013600-104023400	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:104013600-104023600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:104013600-104024200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:104013600-104027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:104013800-104024600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:104014600-104023200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr14:104015600-104021200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:104016400-104023400	Weak transcription	HUVEC	blood vessel
29	chr14:104017400-104021200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:104017400-104022800	Weak transcription	Fetal Brain Female	brain
31	chr14:104017400-104023400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:104017400-104024400	Weak transcription	HepG2	liver
33	chr14:104017400-104024800	Weak transcription	GM12878-XiMat	blood
34	chr14:104017400-104025800	Weak transcription	Fetal Brain Male	brain
35	chr14:104017600-104023200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:104017600-104027200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:104017800-104023400	Weak transcription	Fetal Intestine Large	intestine
38	chr14:104017800-104024800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:104018000-104022000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:104018200-104021200	Weak transcription	Stomach Mucosa	stomach
41	chr14:104018200-104022200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:104018200-104023400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr14:104018200-104023400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr14:104018200-104024400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr14:104018200-104026200	Weak transcription	Pancreas	Pancrea
46	chr14:104018200-104026400	Weak transcription	Small Intestine	intestine
47	chr14:104018400-104021600	Strong transcription	Fetal Intestine Small	intestine
48	chr14:104018600-104021600	Strong transcription	Primary T cells from cord blood	blood
49	chr14:104018600-104023200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:104018600-104023600	Weak transcription	Brain Germinal Matrix	brain

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