Variant report

Variant	rs7514140
Chromosome Location	chr1:224312130-224312131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224311481..224313770-chr1:224348020..224349577,2	K562	blood:
2	chr1:224312047..224314469-chr1:224314721..224316323,2	MCF-7	breast:
3	chr1:224306088..224308328-chr1:224310619..224312209,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10799491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10799507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10799543	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs10916414	0.90[AMR][1000 genomes]
rs10916458	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes]
rs10916462	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10916472	1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs10916481	0.82[EUR][1000 genomes]
rs10916497	0.88[EUR][1000 genomes]
rs10916498	0.85[EUR][1000 genomes]
rs12082619	0.88[EUR][1000 genomes]
rs12083770	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12120308	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12124547	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12126765	0.91[EUR][1000 genomes]
rs12126815	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12133599	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12138866	0.96[EUR][1000 genomes]
rs12140137	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12184283	0.88[EUR][1000 genomes]
rs45583539	0.96[EUR][1000 genomes]
rs60256604	0.92[EUR][1000 genomes]
rs6660194	0.92[EUR][1000 genomes]
rs6686449	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6694451	1.00[CEU][hapmap]
rs6701036	0.85[EUR][1000 genomes]
rs68073536	0.85[EUR][1000 genomes]
rs72751651	0.87[EUR][1000 genomes]
rs72753956	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753980	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753994	0.92[EUR][1000 genomes]
rs72754000	0.96[EUR][1000 genomes]
rs72754001	0.88[EUR][1000 genomes]
rs72755905	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7552239	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7514140	CNIH4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224302800-224318200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:224302800-224318200	Weak transcription	Left Ventricle	heart
3	chr1:224302800-224318200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:224302800-224318400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:224302800-224319600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:224302800-224319600	Weak transcription	Esophagus	oesophagus
7	chr1:224302800-224319600	Weak transcription	Lung	lung
8	chr1:224302800-224319600	Weak transcription	Small Intestine	intestine
9	chr1:224302800-224320200	Weak transcription	Pancreas	Pancrea
10	chr1:224302800-224327200	Weak transcription	Aorta	Aorta
11	chr1:224303000-224315200	Weak transcription	Placenta	Placenta
12	chr1:224303000-224317800	Weak transcription	Ovary	ovary
13	chr1:224303000-224317800	Weak transcription	Thymus	Thymus
14	chr1:224303000-224318000	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:224303000-224318200	Weak transcription	Colonic Mucosa	Colon
16	chr1:224303000-224329000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:224303200-224315400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:224303200-224317800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:224303200-224318000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:224303200-224318000	Weak transcription	HSMMtube	muscle
22	chr1:224303600-224318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:224304000-224315400	Weak transcription	NHLF	lung
24	chr1:224304000-224319600	Weak transcription	Fetal Stomach	stomach
25	chr1:224304200-224315400	Weak transcription	NHDF-Ad	bronchial
26	chr1:224304200-224317800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:224304200-224318200	Weak transcription	Fetal Heart	heart
28	chr1:224304400-224315000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:224304400-224315400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:224304400-224318200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:224304400-224318200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:224304400-224318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:224304400-224318200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:224304400-224318200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:224304400-224320000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:224304600-224313600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:224304600-224315400	Weak transcription	NH-A	brain
38	chr1:224304600-224316200	Weak transcription	HMEC	breast
39	chr1:224304600-224318000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:224304600-224318000	Weak transcription	Brain Angular Gyrus	brain
41	chr1:224304600-224318000	Weak transcription	Brain Germinal Matrix	brain
42	chr1:224304600-224318000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:224304600-224318000	Weak transcription	Fetal Lung	lung
44	chr1:224304600-224318200	Weak transcription	Adipose Nuclei	Adipose
45	chr1:224304600-224318800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr1:224304800-224312800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:224304800-224318400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:224306200-224315000	Weak transcription	Liver	Liver
49	chr1:224306800-224314800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:224306800-224317800	Weak transcription	Fetal Intestine Large	intestine

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