Variant report

Variant	rs6816737
Chromosome Location	chr4:147431302-147431303
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:147428018..147430283-chr4:147430558..147433344,2	MCF-7	breast:
2	chr4:147430052..147432364-chr4:147442835..147444905,2	K562	blood:
3	chr4:147429340..147431925-chr4:147435068..147436668,2	K562	blood:
4	chr4:147431194..147433726-chr4:147442106..147444306,2	MCF-7	breast:
5	chr4:147430052..147432471-chr4:147442517..147444905,3	K562	blood:
6	chr4:147429465..147431339-chr4:147443372..147446035,2	MCF-7	breast:
7	chr4:147429340..147432833-chr4:147435168..147439356,4	K562	blood:
8	chr4:147418770..147421708-chr4:147429098..147431624,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000120519	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10001383	0.87[EUR][1000 genomes]
rs10011222	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10012310	0.87[CEU][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10017463	0.87[CEU][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs10018860	0.90[ASW][hapmap];0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10024266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10026558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10030464	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10032453	0.95[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11100926	0.90[ASW][hapmap];0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11726588	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11726594	0.87[CEU][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11727219	0.87[EUR][1000 genomes]
rs11734649	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11940327	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13105153	0.87[CEU][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13110748	0.87[CEU][hapmap];0.82[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13134417	1.00[CHB][hapmap];0.85[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13134849	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13149918	0.86[CEU][hapmap];0.86[EUR][1000 genomes]
rs13151354	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13435029	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17769016	0.91[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2357087	0.90[YRI][hapmap]
rs3849037	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3914627	0.88[EUR][1000 genomes]
rs3914629	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4835037	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs4835040	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835307	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4835310	0.87[CEU][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs4835312	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4835313	0.90[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4835314	0.91[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4835315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4835316	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537419	0.87[EUR][1000 genomes]
rs6537421	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs6537423	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs6537424	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6537425	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537426	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6812728	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs6815417	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6819042	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6829209	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6837453	0.91[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6840496	0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs6846498	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6849958	0.95[CEU][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7435019	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7437083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7439061	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7439429	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7687182	0.85[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7687917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9992118	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9995307	0.86[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9995820	0.87[AMR][1000 genomes];0.98[EUR][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	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv428453	chr4:147335953-147457115	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6816737	TTC29	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147403000-147436200	Weak transcription	Lung	lung
2	chr4:147403800-147440600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:147404200-147441800	Weak transcription	Right Ventricle	heart
4	chr4:147405400-147436200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:147405400-147440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:147405600-147440800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:147406400-147435200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:147407000-147441800	Weak transcription	Aorta	Aorta
9	chr4:147407200-147441800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:147408200-147441400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:147408200-147442200	Weak transcription	Spleen	Spleen
12	chr4:147408600-147440800	Weak transcription	Fetal Brain Female	brain
13	chr4:147409400-147441200	Weak transcription	Fetal Stomach	stomach
14	chr4:147410400-147436000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:147410400-147441000	Weak transcription	Brain Germinal Matrix	brain
16	chr4:147410400-147441200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:147410800-147432600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:147410800-147432600	Weak transcription	HUVEC	blood vessel
19	chr4:147410800-147436000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr4:147410800-147439600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:147412400-147435800	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:147412400-147441000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:147412600-147441200	Weak transcription	Brain Substantia Nigra	brain
24	chr4:147412800-147435800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr4:147416000-147441400	Weak transcription	Small Intestine	intestine
26	chr4:147416000-147442000	Weak transcription	Gastric	stomach
27	chr4:147416600-147435400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:147416600-147440600	Weak transcription	NH-A	brain
29	chr4:147416800-147432400	Weak transcription	K562	blood
30	chr4:147416800-147432600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:147416800-147434400	Weak transcription	HSMMtube	muscle
32	chr4:147416800-147439800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:147417000-147435800	Weak transcription	Osteobl	bone
34	chr4:147417000-147440600	Weak transcription	Fetal Heart	heart
35	chr4:147417000-147440800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:147417400-147440600	Weak transcription	HMEC	breast
37	chr4:147417600-147439800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr4:147417600-147440600	Weak transcription	NHLF	lung
39	chr4:147417600-147441000	Weak transcription	NHDF-Ad	bronchial
40	chr4:147417600-147441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:147417600-147442200	Weak transcription	Esophagus	oesophagus
42	chr4:147417800-147440600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:147417800-147440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr4:147417800-147442000	Weak transcription	Pancreas	Pancrea
45	chr4:147420600-147441400	Weak transcription	Fetal Brain Male	brain
46	chr4:147421200-147440800	Weak transcription	Colon Smooth Muscle	Colon
47	chr4:147421400-147440600	Weak transcription	HepG2	liver
48	chr4:147423000-147440800	Weak transcription	Ovary	ovary
49	chr4:147423200-147435800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:147423200-147435800	Weak transcription	Stomach Smooth Muscle	stomach

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