Variant report

Variant	rs4614679
Chromosome Location	chr15:35176283-35176284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:35169980..35173467-chr15:35175029..35177005,3	K562	blood:
2	chr15:34879228..34880933-chr15:35174696..35177534,2	K562	blood:
3	chr15:35169980..35172331-chr15:35175029..35176671,2	K562	blood:

Variant related genes	Relation type
ENSG00000215252	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10519967	0.87[CHD][hapmap]
rs11073076	0.82[CHB][hapmap]
rs11855784	0.87[CHD][hapmap]
rs11857217	0.82[CHD][hapmap]
rs12442905	0.82[CHB][hapmap]
rs12593818	0.87[CHD][hapmap]
rs12915493	0.87[CHD][hapmap]
rs1376784	0.87[CHD][hapmap]
rs16959966	0.95[CHD][hapmap]
rs2060809	0.82[CHB][hapmap]
rs2060811	0.82[CHB][hapmap]
rs2290320	0.87[CHD][hapmap]
rs3743121	0.87[CHD][hapmap]
rs3816447	0.87[CHD][hapmap]
rs3848167	0.87[CHD][hapmap]
rs4513050	0.82[CHB][hapmap]
rs4569214	0.81[JPT][hapmap]
rs4924325	0.87[CHD][hapmap]
rs4924344	0.87[CHD][hapmap]
rs4924369	0.87[CHD][hapmap]
rs6495724	0.87[CHD][hapmap]
rs6495730	0.82[CHB][hapmap]
rs7164169	0.82[CHB][hapmap]
rs7164266	0.82[CHB][hapmap]
rs7179833	0.82[CHB][hapmap]
rs7182356	0.82[CHB][hapmap]
rs8025770	0.87[CHD][hapmap]
rs8037610	0.82[CHB][hapmap]
rs8040551	0.87[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv457106	chr15:35049787-35227613	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv569153	chr15:35049787-35227613	Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2761865	chr15:35101678-35271639	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv832967	chr15:35110102-35267906	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv904071	chr15:35150897-35250771	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv904072	chr15:35150897-35259376	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv569154	chr15:35165366-35259376	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4614679	KDM5D	trans	lymphoblastoid	seeQTL
rs4614679	RPS4Y1	trans	lymphoblastoid	seeQTL
rs4614679	EIF1AY	trans	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35140400-35221600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:35142600-35180200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:35142600-35185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:35145200-35198200	Weak transcription	Colonic Mucosa	Colon
5	chr15:35145600-35184600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr15:35145800-35185400	Weak transcription	Psoas Muscle	Psoas
7	chr15:35146600-35184800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr15:35146600-35185200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr15:35146800-35183200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr15:35146800-35185200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:35146800-35185200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr15:35148200-35185400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:35149800-35184400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:35150400-35185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:35152200-35184400	Weak transcription	Stomach Mucosa	stomach
16	chr15:35153800-35184400	Weak transcription	Fetal Heart	heart
17	chr15:35153800-35185200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:35154000-35178200	Weak transcription	NHLF	lung
19	chr15:35154000-35185200	Weak transcription	Gastric	stomach
20	chr15:35154000-35185600	Weak transcription	Fetal Brain Male	brain
21	chr15:35155200-35184400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr15:35156800-35184800	Strong transcription	HSMM	muscle
23	chr15:35157600-35185200	Weak transcription	Aorta	Aorta
24	chr15:35157600-35185200	Weak transcription	Esophagus	oesophagus
25	chr15:35157800-35185200	Weak transcription	Spleen	Spleen
26	chr15:35159600-35184800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr15:35161800-35178200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:35161800-35178800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr15:35161800-35179400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:35161800-35185200	Weak transcription	Brain Angular Gyrus	brain
31	chr15:35161800-35185200	Weak transcription	Right Ventricle	heart
32	chr15:35162000-35184800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:35162000-35184800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr15:35162200-35184600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:35162400-35179400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:35162400-35184200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:35162600-35184800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr15:35165000-35183000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:35165000-35184200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:35165000-35185400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:35167400-35183000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr15:35167400-35184400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr15:35167400-35185200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr15:35167400-35185200	Weak transcription	Lung	lung
45	chr15:35167600-35179400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr15:35168400-35184800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:35168800-35176400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr15:35169000-35179600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:35169200-35180000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr15:35169400-35177800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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